Rdzeniak zarodkowy
Diagnostyka i diagnoza
Rdzeniak zarodkowy (medulloblastoma) to złośliwy nowotwór mózgu stopnia IV WHO, najczęściej występujący u dzieci (15-20% guzów mózgu w populacji pediatrycznej) oraz u dorosłych (około 30%). Lokalizuje się głównie w móżdżku i może szerzyć się przez płyn mózgowo-rdzeniowy do innych części OUN, a rzadziej poza OUN (kości, płuca, układ limfatyczny). Diagnostyka obejmuje szczegółowy wywiad, badanie neurologiczne oraz obrazowanie, z MRI mózgu i rdzenia kręgowego z kontrastem gadolinowym jako podstawowym badaniem, pozwalającym ocenić lokalizację, wielkość guza, obecność wodogłowia i przerzutów. CT głowy z kontrastem jest użyteczne w nagłych przypadkach, uwidaczniając masę w okolicy IV komory i wodogłowie. Diagnostyka molekularna, w tym metylacja DNA i sekwencjonowanie NGS, umożliwia klasyfikację na podgrupy WNT-activated (10-15%, najlepsze rokowanie), SHH-activated (30%, rokowanie pośrednie) oraz Non-WNT/non-SHH (grupa 3 i 4, zróżnicowane rokowanie). Punkcja lędźwiowa do badania cytologicznego płynu mózgowo-rdzeniowego oraz MRI pooperacyjne są kluczowe dla oceny rozsiewu i resekcji guza.
- Diagnostyka rdzeniaków zarodkowych (medulloblastoma)
- Badanie kliniczne i neurologiczne
- Diagnostyka obrazowa
- Badania histopatologiczne i molekularne
- Ocena rozsiewu choroby
- Stratyfikacja ryzyka
- Nowoczesne tendencje w diagnostyce rdzeniaków zarodkowych
- Biopsja płynna
- Zaawansowane techniki obrazowania
- Integracja danych klinicznych i molekularnych
- Diagnostyka predyspozycji genetycznych
- Wnioski
Diagnostyka rdzeniaków zarodkowych (medulloblastoma)
Rdzeniak zarodkowy (medulloblastoma) to najbardziej powszechny złośliwy nowotwór mózgu u dzieci, stanowiący około 15-20% wszystkich guzów mózgu w populacji pediatrycznej i około 30% przypadków występuje u dorosłych. Jest to szybko rosnący nowotwór (stopień IV według klasyfikacji WHO), który rozwija się w móżdżku, w tylnym dole czaszki i może rozprzestrzeniać się przez płyn mózgowo-rdzeniowy do innych obszarów ośrodkowego układu nerwowego, a rzadziej poza OUN, np. do kości, płuc czy układu limfatycznego.123
Ze względu na wysoką złośliwość i szybki wzrost guza, wczesna i dokładna diagnoza rdzeniaków zarodkowych ma kluczowe znaczenie dla rozpoczęcia odpowiedniego leczenia, co bezpośrednio wpływa na rokowanie. Proces diagnostyczny obejmuje szereg badań klinicznych, obrazowych i laboratoryjnych, które wspólnie pozwalają na postawienie diagnozy i określenie stopnia zaawansowania choroby.45
Badanie kliniczne i neurologiczne
Diagnostyka rdzeniaków zarodkowych rozpoczyna się od szczegółowego wywiadu medycznego oraz badania fizykalnego, które koncentruje się na ocenie objawów neurologicznych. Lekarz przeprowadza badanie neurologiczne, oceniając:67
- Koordynację ruchową i równowagę
- Siłę mięśniową
- Odruchy
- Funkcje wzrokowe i słuchowe
- Funkcje motoryczne i czuciowe
Objawy kliniczne sugerujące rdzeniak zarodkowy często związane są ze zwiększonym ciśnieniem wewnątrzczaszkowym i mogą obejmować: uporczywe bóle głowy (zwłaszcza poranne), nudności, wymioty, zaburzenia równowagi, ataksję, zmiany zachowania, podwójne widzenie, oczopląs i wzmożone napięcie ciemiączka u niemowląt.1011
Diagnostyka obrazowa
Badania obrazowe stanowią kluczowy element w diagnostyce rdzeniaków zarodkowych. Umożliwiają one wizualizację guza, określenie jego lokalizacji, wielkości oraz ocenę ewentualnego rozprzestrzeniania się nowotworu.12
Rezonans magnetyczny (MRI)
Rezonans magnetyczny z kontrastem (gadolinium) jest podstawowym badaniem obrazowym w diagnostyce rdzeniaków zarodkowych. MRI mózgu i rdzenia kręgowego dostarcza szczegółowych informacji o:131415
- Lokalizacji i wielkości guza
- Stopniu zajęcia sąsiadujących struktur
- Obecności wodogłowia
- Cechach charakterystycznych guza (ponad 90% rdzeniaków zarodkowych ulega wzmocnieniu po podaniu kontrastu)
- Obecności przerzutów w obrębie ośrodkowego układu nerwowego
Badanie MRI rdzenia kręgowego jest niezbędne do oceny ewentualnego rozsiewu guza w obrębie kanału kręgowego, co ma istotne znaczenie dla określenia stopnia zaawansowania i planowania leczenia.1819
Tomografia komputerowa (CT)
Tomografia komputerowa jest często pierwszym badaniem wykonywanym u pacjentów z objawami neurologicznymi. W przypadku rdzeniaków zarodkowych CT głowy z kontrastem i bez kontrastu zwykle uwidacznia:2021
- Litą masę w okolicy IV komory mózgu
- Wodogłowie (obecne u większości pacjentów)
- Wzmocnienie kontrastowe guza (występuje w około 95% przypadków)
CT jest szczególnie przydatne w sytuacjach nagłych, gdy konieczna jest szybka ocena struktur mózgu, jednak nie dostarcza tak szczegółowych informacji jak MRI.23
Inne badania obrazowe
W niektórych przypadkach mogą być wykonywane dodatkowe badania obrazowe, takie jak:
- Pozytonowa tomografia emisyjna (PET) – może być pomocna w identyfikacji aktywności metabolicznej guza oraz w wykrywaniu przerzutów poza ośrodkowym układem nerwowym
- Scyntygrafia kości – wykonywana u pacjentów z objawami sugerującymi przerzuty do kości
Badania histopatologiczne i molekularne
Ostateczne rozpoznanie rdzeniaków zarodkowych wymaga analizy histopatologicznej tkanki guza. Materiał do badania uzyskuje się zwykle podczas zabiegu chirurgicznego, którego celem jest zarówno pobranie próbki, jak i maksymalne usunięcie guza.2728
Badanie histopatologiczne
Badanie histopatologiczne przeprowadzane przez neuropatologa obejmuje:2930
- Ocenę mikroskopową komórek guza
- Określenie wariantu histologicznego (klasyczny, desmoplastyczny/guzkowy, z rozległą guzkowatością, wielkokomórkowy/anaplastyczny)
- Ocenę indeksu proliferacji i aktywności mitotycznej
- Badania immunohistochemiczne (IHC) z wykorzystaniem markerów liniowych lub specyficznych dla danego typu guza
Wszystkie rdzeniaki zarodkowe klasyfikowane są jako guzy IV stopnia złośliwości (grade IV) według WHO ze względu na ich złośliwy charakter i szybki wzrost.3334
Badania molekularne
W ostatnich latach diagnostyka molekularna stała się niezbędnym elementem procesu diagnostycznego, umożliwiającym klasyfikację rdzeniaków zarodkowych na podgrupy molekularne, co ma istotne znaczenie dla rokowania i planowania leczenia.3536
Zgodnie z aktualną klasyfikacją WHO, wyróżnia się następujące podgrupy molekularne rdzeniaków zarodkowych:373839
- WNT-activated (aktywacja szlaku WNT) – stanowi około 10-15% przypadków, występuje głównie u starszych dzieci (7-14 lat), charakteryzuje się najlepszym rokowaniem
- SHH-activated (aktywacja szlaku Sonic Hedgehog) – stanowi około 30% przypadków, wykazuje bimodalny rozkład występowania (pierwszy szczyt u niemowląt, drugi u dorosłych i dzieci powyżej 16 roku życia), rokowanie pośrednie
- Non-WNT/non-SHH (grupa 3 i grupa 4) – stanowi największą grupę rdzeniaków zarodkowych, grupa 3 wiąże się z gorszym rokowaniem, grupa 4 z pośrednim
Metody badań molekularnych obejmują:4243
- Sekwencjonowanie nowej generacji (NGS)
- Profilowanie ekspresji genów
- Metylację DNA
- Badania cytogenetyczne
- Analizę mutacji specyficznych genów (np. CTNNB1, TP53)
Metylacja DNA jest obecnie uważana za najdokładniejszą metodę diagnostyki molekularnej rdzeniaków zarodkowych.46
Ocena rozsiewu choroby
Rdzeniaki zarodkowe charakteryzują się tendencją do rozsiewu przez płyn mózgowo-rdzeniowy. W celu oceny stopnia zaawansowania choroby wykonuje się:4748
Badanie płynu mózgowo-rdzeniowego
Nakłucie lędźwiowe (punkcja lędźwiowa) wykonuje się w celu pobrania płynu mózgowo-rdzeniowego do badania cytologicznego. Pozwala to na ocenę obecności komórek nowotworowych w płynie mózgowo-rdzeniowym, co świadczy o rozsiewie choroby.4950
Należy podkreślić, że punkcja lędźwiowa powinna być wykonana co najmniej 2 tygodnie po operacji usunięcia guza, aby uniknąć fałszywie dodatnich wyników związanych z pooperacyjnym rozsianiem komórek.51
Pooperacyjne MRI
Badanie MRI mózgu wykonane w ciągu 24-72 godzin po operacji ma kluczowe znaczenie dla oceny stopnia resekcji guza i identyfikacji ewentualnej choroby resztkowej. Jest to istotny czynnik wpływający na dalsze postępowanie terapeutyczne i rokowanie.5253
Badania w kierunku przerzutów odległych
W przypadku podejrzenia przerzutów poza ośrodkowy układ nerwowy wykonuje się:54
- CT lub PET całego ciała
- Scyntygrafię kości (w przypadku bólu kostnego)
Stratyfikacja ryzyka
Na podstawie wyników badań diagnostycznych, pacjentów z rdzeniakiem zarodkowym klasyfikuje się do grup ryzyka, co ma kluczowe znaczenie dla wyboru optymalnej strategii leczenia.5758
Tradycyjnie wyróżnia się dwie główne grupy ryzyka:5960
- Standardowe ryzyko: brak przerzutów, całkowite lub prawie całkowite usunięcie guza (pozostałość <1,5 cm²), wiek powyżej 3 lat
- Wysokie ryzyko: obecność przerzutów, znacząca pozostałość guza (≥1,5 cm²), wiek poniżej 3 lat
Współczesne podejście uwzględnia również podgrupy molekularne, które mają istotne znaczenie prognostyczne:6263
- Guzy WNT-activated: bardzo dobre rokowanie
- Guzy SHH-activated: u niemowląt dobre rokowanie, u pozostałych pośrednie
- Grupa 3: złe rokowanie
- Grupa 4: pośrednie rokowanie
Dodatkowo, obecność określonych zmian genetycznych może wpływać na rokowanie, np. mutacje TP53 w guzach SHH-activated wiążą się ze szczególnie agresywnym przebiegiem klinicznym i gorszym rokowaniem.65
Nowoczesne tendencje w diagnostyce rdzeniaków zarodkowych
Diagnostyka rdzeniaków zarodkowych dynamicznie się rozwija, a nowe metody badawcze pozwalają na coraz dokładniejszą charakterystykę tych nowotworów.66
Biopsja płynna
Biopsja płynna płynu mózgowo-rdzeniowego umożliwia wykrywanie krążącego DNA nowotworowego, co może stanowić mniej inwazyjną metodę diagnostyki i monitorowania odpowiedzi na leczenie.6768
Zaawansowane techniki obrazowania
Trwają badania nad wykorzystaniem zaawansowanych technik obrazowania MRI w połączeniu ze sztuczną inteligencją do identyfikacji podtypów molekularnych rdzeniaków zarodkowych bez konieczności inwazyjnej biopsji.697071
Integracja danych klinicznych i molekularnych
Nowoczesne podejście do diagnostyki rdzeniaków zarodkowych zakłada integrację danych klinicznych, obrazowych, histopatologicznych i molekularnych w celu opracowania zindywidualizowanych strategii terapeutycznych.7273
Diagnostyka predyspozycji genetycznych
Obecnie coraz większą uwagę zwraca się na identyfikację predyspozycji genetycznych do rozwoju rdzeniaków zarodkowych. Mutacje germinalne występują u około 5% pacjentów z rdzeniakiem zarodkowym i obejmują takie geny jak: APC, BRCA2, PALB2, PTCH1, SUFU i TP53.7475
Wnioski
Diagnostyka rdzeniaków zarodkowych (medulloblastoma) jest procesem wieloetapowym, wymagającym współpracy specjalistów z różnych dziedzin, w tym neurologów, neurochirurgów, radiologów, neuropatologów i onkologów. Kompleksowe podejście diagnostyczne, obejmujące badania kliniczne, obrazowe, histopatologiczne i molekularne, pozwala na precyzyjną charakterystykę guza, co ma kluczowe znaczenie dla wyboru optymalnej strategii terapeutycznej i poprawy rokowania pacjentów.7677
Wprowadzenie klasyfikacji molekularnej rdzeniaków zarodkowych zrewolucjonizowało podejście do leczenia tych nowotworów, umożliwiając dopasowanie terapii do specyficznych cech biologicznych guza. Dzięki postępowi w diagnostyce i leczeniu, wskaźniki 5-letniego przeżycia w przypadku rdzeniaków zarodkowych osiągają obecnie około 80%, co stanowi znaczącą poprawę w porównaniu z wcześniejszymi dekadami.7879
Dalszy rozwój metod diagnostycznych, w tym zaawansowanych technik obrazowych i molekularnych, może przyczynić się do jeszcze lepszego zrozumienia biologii rdzeniaków zarodkowych i opracowania bardziej skutecznych, zindywidualizowanych strategii terapeutycznych, co w konsekwencji może prowadzić do poprawy wyników leczenia i jakości życia pacjentów.8081
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Materiały źródłowe
- #1 Medulloblastoma: Diagnosis and Treatment – NCIhttps://www.cancer.gov/rare-brain-spine-tumor/tumors/medulloblastoma
To get an accurate diagnosis, a piece of tumor tissue will be removed during surgery, if possible. A neuropathologist should then review the tumor tissue. […] Medulloblastomas are all classified as grade 4 (also written as grade IV) tumors. This means they are malignant (cancerous) and fast-growing. […] Additionally, medulloblastomas need stagingobtaining tests to detect if the tumor has spread to other areas of the CNS or outside the CNS. […] Once the mass is diagnosed as a medulloblastoma, a magnetic resonance imaging (MRI) scan of the spinal cord can show if it has spread. […] Medulloblastomas are very fast-growing. They often spread to other areas of the CNS through CSF. Medulloblastomas can also spread outside the CNS, for example, to the bones, lungs, or lymphatic system. […] Seventy percent of medulloblastoma cases occur in children and 30 percent occur in adults.
- #2 Medulloblastoma: Symptoms, Causes & Treatmenthttps://my.clevelandclinic.org/health/diseases/22591-medulloblastoma
Medulloblastoma is a cancerous brain tumor that starts near your brainstem in your cerebellum. […] Medulloblastoma is a cancerous tumor of your central nervous system (CNS). It forms in the cerebellum, an area near the back of your brain. […] Medulloblastoma mostly affects children and teens under the age of 16. […] This type of cancer is rare, affecting about 437 children and adults in the U.S. each year. […] Medulloblastomas usually grow quickly. The cancer can spread to other parts of your brain and spinal cord through cerebrospinal fluid (a clear fluid that protects your brain and spinal cord from injury). […] If they suspect medulloblastoma, theyll recommend tests to confirm your diagnosis. […] There are a few different tests that can help your healthcare provider make a diagnosis.
- #3 Diagnosis of Medulloblastoma | medulloblastoma.orghttps://medulloblastoma.org/medullo-facts/diagnosis-of-medulloblastoma/
Medulloblastoma is the most common malignant brain tumor in children, with about 400-500 new diagnoses per year in the United States. […] The signs and symptoms of medulloblastoma prompt an evaluation that includes a neurological exam by a doctor, as well as magnetic resonance imaging (MRI). Sometimes a computed tomography (CT) scan is also ordered. […] Most often a lumbar puncture (spinal tap) will also be done. This involves collecting cerebrospinal fluid for testing to see if medulloblastoma cells are floating in the spinal fluid. […] Surgery is required to diagnose medulloblastoma, and is also the first treatment. The goal is to remove as much of the tumor as possible. This is often referred to as tumor resection. […] After the tumor has been removed, a portion of it will be sent to a lab for testing.
- #4 Medulloblastoma Diagnosis | Expert Surgeon | Aaron Cohen-Gadol, MD | Aaron Cohen-Gadol, MDhttps://www.aaroncohen-gadol.com/en/patients/medulloblastoma/types/diagnosis
Medulloblastoma is a fast-growing brain tumor that often affects children, but it can also be found in adults. Early diagnosis is essential because it can significantly impact the effectiveness of treatment and the overall prognosis. […] Timely and accurate diagnosis is a key step in improving the survival rate and quality of life for those affected by this condition. […] Diagnosis typically begins when a patient presents with symptoms that may indicate a medulloblastoma. […] When medulloblastoma is suspected, the next step in the diagnostic process is to obtain detailed images of the brain to identify the presence of a tumor. […] Imaging alone cannot provide a definitive diagnosis, which is why a biopsy is often necessary. […] A lumbar puncture may be performed to analyze cerebrospinal fluid (CSF) for the presence of tumor cells.
- #5 Medulloblastoma Diagnosis and Treatment | IntechOpenhttps://www.intechopen.com/chapters/1185809
Medulloblastoma (MB) remains a challenging entity due to its aggressive nature, particularly when affecting pediatric populations. The diagnosis and subsequent classification of MB are pivotal in determining appropriate treatment strategies and predicting patient outcomes. The intricate diagnostic process involves a series of essential steps that collectively contribute to a comprehensive understanding of the tumor. […] The clinical evaluation of a patient suspected of having MB is crucial in establishing a baseline for further investigations. The clinical presentation of medulloblastoma is generally nonspecific and is similar to that of other posterior fossa tumors. Symptoms such as persistent headaches, unexplained nausea, vomiting, and neurological deficits often prompt medical attention, leading to a detailed assessment of the individuals medical history and presenting complaints. This initial stage sets the foundation for the subsequent diagnostic modalities and treatment decisions.
- #6 Medulloblastoma – Diagnosis and treatment – Mayo Clinichttps://www.mayoclinic.org/diseases-conditions/medulloblastoma/diagnosis-treatment/drc-20579280
The process of diagnosis usually starts with a medical history review and a discussion of signs and symptoms. Tests and procedures used to diagnose medulloblastoma include: […] Neurological exam. During this exam, vision, hearing, balance, coordination and reflexes are tested. This can help show which part of the brain might be affected by the tumor. […] Imaging tests. Imaging tests capture pictures of the brain. The pictures can show the size and location of the tumor. These tests may show pressure or blockages of the cerebrospinal fluid. CTs and MRIs are used for the imaging, but other tests might be needed in certain situations. […] Tissue sample testing. A biopsy is a procedure to remove a sample of the tumor for testing. Biopsies for medulloblastoma are uncommon but might be used in certain situations. In a biopsy, part of the skull is removed. A needle is used to take a sample of the tumor. The sample is tested in a lab to see if it’s a medulloblastoma.
- #7 Medulloblastoma Diagnosis | MD Anderson Cancer Centerhttps://www.mdanderson.org/cancer-types/medulloblastoma/medulloblastoma-diagnosis.html
If you or your child have symptoms that may signal medulloblastoma, your doctor will perform an exam and ask questions about overall health. The doctor also may do a neurological exam to test reflexes, muscle strength, vision and other functions of the brain and spine. […] One or more of the following diagnostic tests may be used to find out if you or your child have medulloblastoma and if it has spread. These tests also may be used to find out if treatment is working. […] Imaging tests, including: CT (computed tomography) scans, MRI (magnetic resonance imaging) of the brain and spine, PET (positive emission tomography) scan. […] If an MRI or CT of the brain shows a tumor in the lower part of the back of the brain, medulloblastoma may be a possibility. In an operation called a craniotomy, all or part of the brain tumor is removed. This is needed to confirm the diagnosis and is the first step of treatment. If tumor removal is not possible, a biopsy may be needed. In a biopsy, a small sample is removed from the tumor and looked at with a microscope to confirm the diagnosis.
- #8 Medulloblastomahttps://www.rwjbh.org/treatment-care/neuroscience/neurosurgery/conditions-treated/medulloblastoma/
Medulloblastoma Diagnosis […] The process of diagnosis starts with taking the patients medical history and discussing their signs and symptoms, sometimes with the parent if the child is very young. […] Neurological exam: Your childs doctor will check for abnormalities in hearing, vision, balance, coordination, and reflexes, which can help determine which part of the brain a tumor might be located. […] Imaging tests: These tests can identify pressure or blockage of the cerebrospinal fluid (CSF), which can be an indication of medulloblastoma. Computerized tomography (CT) scans or magnetic resonance imaging (MRI) scans must be done to diagnose a brain tumor to find the tumors location and determine size. […] Biopsy: This is needed to analyze suspicious brain tissues in a lab to determine cell type. […] Lumbar puncture: Also called a spinal tap, this procedure involves collecting CSF from around the spinal cord, to test it for tumor cells or other abnormalities. This test is done after surgery to remove the tumor or relieve pressure on the brain.
- #9 Medulloblastoma – Symptoms, Diagnosis, TreatmentSecond Opinion IconGroup 9Second Opinion IconGroup 9Group 49https://www.barrowneuro.org/condition/medulloblastoma/
A medulloblastoma is a cancerous brain tumor that starts in the cerebellum, at the base of the skull. […] Knowing a medulloblastomaâs histologic and molecular subtype is critical because it helps guide diagnosis, treatment, and overall prognosis. […] Diagnosing a medulloblastoma often involves multiple steps, beginning with an evaluation and followed by a series of imaging and diagnostic tests. […] Doctors commonly use these exams, tests, and imaging studies to find a diagnosis: Physical and neurological exam: First, your healthcare provider will ask about your symptoms, overall health, and any risk factors you might have for a medulloblastoma, including genetic conditions or family history. […] An MRI is the leading imaging test to detect a medulloblastoma. […] If your imaging results suggest a tumor, a conclusive diagnosis will require a biopsy.
- #10 Clinical presentation, diagnosis, and risk stratification of medulloblastoma – UpToDatehttps://www.uptodate.com/contents/clinical-presentation-diagnosis-and-risk-stratification-of-medulloblastoma
Clinical presentation, diagnosis, and risk stratification of medulloblastoma […] The epidemiology, clinical presentation, diagnosis, and risk stratification of medulloblastoma in children and adults will be discussed here. […] Symptoms â Medulloblastomas most commonly present with symptoms representative of increased intracranial pressure, including nocturnal or morning headaches, nausea, vomiting, and altered mental status. Symptoms usually evolve over a period of weeks to a few months. Infants may present with more nonspecific or atypical symptoms, like increased head circumference, lethargy, sun downing, and/or failure to thrive.
- #11 Medulloblastoma – Symptoms, diagnosis and treatment | BMJ Best Practice UShttps://bestpractice.bmj.com/topics/en-us/733?locale=fr
Medulloblastoma is a malignant, invasive brain tumor arising from the cerebellum. […] Computed tomography and magnetic resonance imaging of the brain and spine are used to diagnose the condition. […] Key diagnostic factors include headache, nausea and vomiting. […] Other diagnostic factors include behavioral changes, diplopia, ophthalmoplegias, bulging anterior fontanelle, papilledema, nystagmus, head tilt, ataxia, dysmetria, and lethargy. […] 1st tests to order include brain MRI, brain CT, histology, cervical, thoracic, and lumbar spine MRI, lumbar puncture, and postoperative MRI.
- #12 Medulloblastoma – Diagnosis and treatment – Mayo Clinichttps://www.mayoclinic.org/diseases-conditions/medulloblastoma/diagnosis-treatment/drc-20579280
The process of diagnosis usually starts with a medical history review and a discussion of signs and symptoms. Tests and procedures used to diagnose medulloblastoma include: […] Neurological exam. During this exam, vision, hearing, balance, coordination and reflexes are tested. This can help show which part of the brain might be affected by the tumor. […] Imaging tests. Imaging tests capture pictures of the brain. The pictures can show the size and location of the tumor. These tests may show pressure or blockages of the cerebrospinal fluid. CTs and MRIs are used for the imaging, but other tests might be needed in certain situations. […] Tissue sample testing. A biopsy is a procedure to remove a sample of the tumor for testing. Biopsies for medulloblastoma are uncommon but might be used in certain situations. In a biopsy, part of the skull is removed. A needle is used to take a sample of the tumor. The sample is tested in a lab to see if it’s a medulloblastoma.
- #13 Medulloblastoma Diagnosis | MD Anderson Cancer Centerhttps://www.mdanderson.org/cancer-types/medulloblastoma/medulloblastoma-diagnosis.html
If you or your child have symptoms that may signal medulloblastoma, your doctor will perform an exam and ask questions about overall health. The doctor also may do a neurological exam to test reflexes, muscle strength, vision and other functions of the brain and spine. […] One or more of the following diagnostic tests may be used to find out if you or your child have medulloblastoma and if it has spread. These tests also may be used to find out if treatment is working. […] Imaging tests, including: CT (computed tomography) scans, MRI (magnetic resonance imaging) of the brain and spine, PET (positive emission tomography) scan. […] If an MRI or CT of the brain shows a tumor in the lower part of the back of the brain, medulloblastoma may be a possibility. In an operation called a craniotomy, all or part of the brain tumor is removed. This is needed to confirm the diagnosis and is the first step of treatment. If tumor removal is not possible, a biopsy may be needed. In a biopsy, a small sample is removed from the tumor and looked at with a microscope to confirm the diagnosis.
- #14 Medulloblastoma Diagnosis | MD Anderson Cancer Centerhttps://www.mdanderson.org/cancer-types/medulloblastoma/medulloblastoma-diagnosis.html
In addition to tumor removal, additional tests are required to evaluate how much the disease has spread from its original site and decide the best course of treatment. These tests include: A brain MRI obtained after tumor removal, A whole spine MRI, A spinal tap, or lumbar puncture. During this procedure, a small amount of cerebrospinal fluid (clear liquid in and around the brain and spine) is removed with a needle from the spinal canal. It is then examined with a microscope to determine if tumor cells have spread into the cerebrospinal fluid. A CT or a PET scan of the body may be needed in some cases to determine if the tumor has spread outside of the nervous system.
- #15 Pediatric Medulloblastoma Workup: Laboratory Studies, Imaging Studies, Other Testshttps://emedicine.medscape.com/article/987886-workup
The routine pretreatment laboratory evaluation for medulloblastoma includes a complete blood cell (CBC) count, electrolytes, liver, and renal function tests. Baseline thyroid function studies and viral titers are also recommended. […] Diagnosis is usually made by magnetic resonance imaging (MRI) or computed tomography (CT). […] CT scan of the brain is commonly used during initial evaluation of patients with neurologic symptoms. In patients with medulloblastoma, CT scan of the head with and without contrast usually shows a solid mass in the 4th ventricle with prominent hydrocephalus in most patients. The vast majority (95%) of medulloblastoma are contrast-enhancing. […] Head and spinal MRI with and without gadolinium should be performed in all patients with CT or clinical findings consistent with medulloblastoma. MRI better demonstrates the anatomic origin and extent of tumor. More than 90% of medulloblastoma tumors enhance with contrast. Contrast is essential to detect CSF dissemination.
- #16 Medulloblastoma – Symptoms, diagnosis and treatment | BMJ Best Practice UShttps://bestpractice.bmj.com/topics/en-us/733
Medulloblastoma is a malignant, invasive brain tumor arising from the cerebellum. […] Computed tomography and magnetic resonance imaging of the brain and spine are used to diagnose the condition. […] Key diagnostic factors include headache, nausea and vomiting. […] 1st tests to order include brain MRI, brain CT, histology, cervical, thoracic, and lumbar spine MRI, lumbar puncture, and postoperative MRI.
- #17 What is Medulloblastoma? | medulloblastoma.orghttps://medulloblastoma.org/medullo-facts/what-is-medulloblastoma/
Medulloblastoma can spread to other areas of the brain and spine even before diagnosis. […] A magnetic resonance imaging (MRI) scan is the best noninvasive way to determine the size and properties of brain tumors. […] But the best way to evaluate medulloblastoma through imaging is with an MRI of the brain. An MRI of the spine is done as well to see if there is spread of tumor also known as „metastasis.” […] Once the tumor is removed during surgery, a portion of it will be sent to a lab for testing. Thats what allows your doctor to make a definitive diagnosis of medulloblastoma.
- #18 Pediatric Medulloblastoma Workup: Laboratory Studies, Imaging Studies, Other Testshttps://emedicine.medscape.com/article/987886-workup
The routine pretreatment laboratory evaluation for medulloblastoma includes a complete blood cell (CBC) count, electrolytes, liver, and renal function tests. Baseline thyroid function studies and viral titers are also recommended. […] Diagnosis is usually made by magnetic resonance imaging (MRI) or computed tomography (CT). […] CT scan of the brain is commonly used during initial evaluation of patients with neurologic symptoms. In patients with medulloblastoma, CT scan of the head with and without contrast usually shows a solid mass in the 4th ventricle with prominent hydrocephalus in most patients. The vast majority (95%) of medulloblastoma are contrast-enhancing. […] Head and spinal MRI with and without gadolinium should be performed in all patients with CT or clinical findings consistent with medulloblastoma. MRI better demonstrates the anatomic origin and extent of tumor. More than 90% of medulloblastoma tumors enhance with contrast. Contrast is essential to detect CSF dissemination.
- #19 Pediatric Medulloblastoma Workup: Laboratory Studies, Imaging Studies, Other Testshttps://emedicine.medscape.com/article/987886-workup
Preoperative and postoperative MRI is required for detection and measurement of residual disease following surgical resection. Postoperative MRI evaluation should be performed within 72 hours of surgery to delineate residual tumor from the postsurgical inflammatory changes that are visualized on MRI at this time. […] Spinal MRI is the most sensitive method available for detection of spinal cord metastasis. […] Because medulloblastoma can metastasize outside the CNS, especially to bone, a bone scan with plain film correlation may be useful in symptomatic patients. […] A baseline hearing test (audiography or brainstem auditory-evoked response [BAER]) is recommended because of the potential toxicity from radiation and chemotherapy. […] CSF cytologic examination is useful for the detection of microscopic leptomeningeal tumor dissemination. However, neither clinical symptoms nor negative CSF cytologic findings can be relied on to indicate the presence of nodular spinal cord disease. […] Staging is based on the extent of tumor at the time of diagnosis and the degree of surgical resection. Complete staging requires pre- and postoperative MRI of the entire brain and spine, postoperative MRI of the tumor site, and CSF analysis.
- #20 Pediatric Medulloblastoma Workup: Laboratory Studies, Imaging Studies, Other Testshttps://emedicine.medscape.com/article/987886-workup
The routine pretreatment laboratory evaluation for medulloblastoma includes a complete blood cell (CBC) count, electrolytes, liver, and renal function tests. Baseline thyroid function studies and viral titers are also recommended. […] Diagnosis is usually made by magnetic resonance imaging (MRI) or computed tomography (CT). […] CT scan of the brain is commonly used during initial evaluation of patients with neurologic symptoms. In patients with medulloblastoma, CT scan of the head with and without contrast usually shows a solid mass in the 4th ventricle with prominent hydrocephalus in most patients. The vast majority (95%) of medulloblastoma are contrast-enhancing. […] Head and spinal MRI with and without gadolinium should be performed in all patients with CT or clinical findings consistent with medulloblastoma. MRI better demonstrates the anatomic origin and extent of tumor. More than 90% of medulloblastoma tumors enhance with contrast. Contrast is essential to detect CSF dissemination.
- #21 Diagnosis of Medulloblastoma | medulloblastoma.orghttps://medulloblastoma.org/medullo-facts/diagnosis-of-medulloblastoma/
Medulloblastoma is the most common malignant brain tumor in children, with about 400-500 new diagnoses per year in the United States. […] The signs and symptoms of medulloblastoma prompt an evaluation that includes a neurological exam by a doctor, as well as magnetic resonance imaging (MRI). Sometimes a computed tomography (CT) scan is also ordered. […] Most often a lumbar puncture (spinal tap) will also be done. This involves collecting cerebrospinal fluid for testing to see if medulloblastoma cells are floating in the spinal fluid. […] Surgery is required to diagnose medulloblastoma, and is also the first treatment. The goal is to remove as much of the tumor as possible. This is often referred to as tumor resection. […] After the tumor has been removed, a portion of it will be sent to a lab for testing.
- #22 Medulloblastoma | Applied Radiologyhttps://appliedradiology.com/articles/medulloblastoma
Noncontrast CT demonstrated a heterogeneous, hyperattenuating posterior fossa mass compressing the 4th ventricle anteriorly. […] Brain MRI subsequently demonstrated the mildly T2 hyperintense mass to be centered in the medial aspect of the right cerebellar hemisphere with local mass effect, including compression of the fourth ventricle and brainstem. […] Medulloblastoma. Differential diagnosis includes ependymoma, astrocytoma, and atypical teratoid rhabdoid tumor. […] On computed tomography, MBs typically are hyperattenuating midline vermian masses with contrast enhancement that obstruct the fourth ventricle. […] However, magnetic resonance imaging is the gold standard for evaluating pediatric MB. […] Evidence suggests MB molecular subtypes display specific features on MRI. […] Currently, diagnosing MB molecular subtypes based on MRI is not always standard of care, but continued research, refinement of MRI protocols, and improved technology may create such a possibility. […] Medulloblastomas are the most common pediatric malignant tumor and should be considered in any patient presenting with signs and symptoms of cerebellar dysfunction or intracranial hypertension. […] Standard treatment consists of surgical resection followed by radiation and chemotherapy.
- #23 Medulloblastoma | Nationwide Children’s Hospitalhttps://www.nationwidechildrens.org/conditions/medulloblastoma
How Is a Medulloblastoma Diagnosed? […] Your child’s healthcare provider will ask about your child’s health history and symptoms. The provider will do a physical exam and a neurological exam. They will test your childs reflexes, muscle strength, eye and mouth movement and coordination. Your child’s healthcare provider may refer your child to a cancer specialist (oncologist). Your child may need additional tests, including: […] CT Scan – A CT scan uses a series of X-rays and a computer to take pictures of the head or body. CT scans are very quick imaging, usually no more than a few minutes of scanning (though preparation may take longer). […] MRI – An MRI uses large magnets, radio waves and a computer to make detailed pictures of the body. Contrast dye may be injected into your child’s vein to make the tumor more visible. MRIs are very detailed imaging (provide much more information about the tumor), so take longer to perform (often 1-2 hours).
- #24 Medulloblastoma Diagnosis | MD Anderson Cancer Centerhttps://www.mdanderson.org/cancer-types/medulloblastoma/medulloblastoma-diagnosis.html
If you or your child have symptoms that may signal medulloblastoma, your doctor will perform an exam and ask questions about overall health. The doctor also may do a neurological exam to test reflexes, muscle strength, vision and other functions of the brain and spine. […] One or more of the following diagnostic tests may be used to find out if you or your child have medulloblastoma and if it has spread. These tests also may be used to find out if treatment is working. […] Imaging tests, including: CT (computed tomography) scans, MRI (magnetic resonance imaging) of the brain and spine, PET (positive emission tomography) scan. […] If an MRI or CT of the brain shows a tumor in the lower part of the back of the brain, medulloblastoma may be a possibility. In an operation called a craniotomy, all or part of the brain tumor is removed. This is needed to confirm the diagnosis and is the first step of treatment. If tumor removal is not possible, a biopsy may be needed. In a biopsy, a small sample is removed from the tumor and looked at with a microscope to confirm the diagnosis.
- #25 Medulloblastoma Diagnosis | MD Anderson Cancer Centerhttps://www.mdanderson.org/cancer-types/medulloblastoma/medulloblastoma-diagnosis.html
In addition to tumor removal, additional tests are required to evaluate how much the disease has spread from its original site and decide the best course of treatment. These tests include: A brain MRI obtained after tumor removal, A whole spine MRI, A spinal tap, or lumbar puncture. During this procedure, a small amount of cerebrospinal fluid (clear liquid in and around the brain and spine) is removed with a needle from the spinal canal. It is then examined with a microscope to determine if tumor cells have spread into the cerebrospinal fluid. A CT or a PET scan of the body may be needed in some cases to determine if the tumor has spread outside of the nervous system.
- #26 Pediatric Medulloblastoma Workup: Laboratory Studies, Imaging Studies, Other Testshttps://emedicine.medscape.com/article/987886-workup
Preoperative and postoperative MRI is required for detection and measurement of residual disease following surgical resection. Postoperative MRI evaluation should be performed within 72 hours of surgery to delineate residual tumor from the postsurgical inflammatory changes that are visualized on MRI at this time. […] Spinal MRI is the most sensitive method available for detection of spinal cord metastasis. […] Because medulloblastoma can metastasize outside the CNS, especially to bone, a bone scan with plain film correlation may be useful in symptomatic patients. […] A baseline hearing test (audiography or brainstem auditory-evoked response [BAER]) is recommended because of the potential toxicity from radiation and chemotherapy. […] CSF cytologic examination is useful for the detection of microscopic leptomeningeal tumor dissemination. However, neither clinical symptoms nor negative CSF cytologic findings can be relied on to indicate the presence of nodular spinal cord disease. […] Staging is based on the extent of tumor at the time of diagnosis and the degree of surgical resection. Complete staging requires pre- and postoperative MRI of the entire brain and spine, postoperative MRI of the tumor site, and CSF analysis.
- #27 Medulloblastoma: Diagnosis and Treatment – NCIhttps://www.cancer.gov/rare-brain-spine-tumor/tumors/medulloblastoma
To get an accurate diagnosis, a piece of tumor tissue will be removed during surgery, if possible. A neuropathologist should then review the tumor tissue. […] Medulloblastomas are all classified as grade 4 (also written as grade IV) tumors. This means they are malignant (cancerous) and fast-growing. […] Additionally, medulloblastomas need stagingobtaining tests to detect if the tumor has spread to other areas of the CNS or outside the CNS. […] Once the mass is diagnosed as a medulloblastoma, a magnetic resonance imaging (MRI) scan of the spinal cord can show if it has spread. […] Medulloblastomas are very fast-growing. They often spread to other areas of the CNS through CSF. Medulloblastomas can also spread outside the CNS, for example, to the bones, lungs, or lymphatic system. […] Seventy percent of medulloblastoma cases occur in children and 30 percent occur in adults.
- #28 Medulloblastoma: Diagnosis and Treatment – NCIhttps://www.cancer.gov/rare-brain-spine-tumor/tumors/medulloblastoma
The relative five-year survival rate for medulloblastoma is 80.6 percent. However, many factors can affect prognosis. […] The first treatment for medulloblastoma is surgery, if possible. The goal of surgery is to obtain tissue to determine the tumor type and remove as much tumor as possible without causing more symptoms for the person. […] Most people with medulloblastomas also receive additional treatments. These may include radiation, chemotherapy, or clinical trials.
- #29 Diagnosis of Medulloblastoma | medulloblastoma.orghttps://medulloblastoma.org/medullo-facts/diagnosis-of-medulloblastoma/
Your care team will then take all of the information theyve gathered the MRI of the brain, the MRI of the spine, the lumbar puncture results, and the results of the tumor pathology (analysis) at the lab and use it to help determine the direction for next steps in treatment. […] A pathologist looks at body tissues and performs lab tests to help your doctor reach a diagnosis. Pathologists grade brain tumors on a 1 to 4 scale. These numbers indicate how aggressive they are. Lower numbers indicate less-aggressive tumors. […] All medulloblastomas are grade 4 tumors, because they are malignant (cancerous), aggressive tumors. You may also see this written as grade IV. […] A pathologist also examines the tumor to determine its subtype. Knowing the medulloblastoma subtype provides further details on prognosis and treatment of the cancer.
- #30 Pathology, diagnostics, and classification of medulloblastomahttps://pmc.ncbi.nlm.nih.gov/articles/PMC7317787/
Medulloblastoma (MB) is the most common CNS embryonal tumor. While the overall cure rate is around 70%, patients with high-risk disease continue to have poor outcome and experience long-term morbidity. MB is among the tumors for which diagnosis, risk stratification, and clinical management has shown the most rapid advancement. […] These advances are largely due to technological improvements in diagnosis and risk stratification which now integrate histomorphologic classification and molecular classification. […] This review explores the current diagnostic and classification of MB in modern neuropathology laboratories. […] The 2007 edition of the WHO Classification of Tumors of the Central Nervous System first recognized that histologic variants of MB carried variable clinical risk. In the 2016 update, a layered approach is employed integrating morphologic and genomic data in accordance with the Haarlem guidelines for nervous system tumor classification and grading. […] The newest classification scheme separates MB into two separate general designations, MB, histologically defined and MB, genetically defined.
- #31 Pathology, diagnostics, and classification of medulloblastomahttps://pmc.ncbi.nlm.nih.gov/articles/PMC7317787/
The diagnosis of MB should be considered in the context of any embryonal brain tumor in the cerebellum, cerebellar peduncle, or fourth ventricle. […] These can typically be excluded by a combination of subtle histologic findings or immunohistochemistry (IHC), using lineage markers or entity specific stains. […] Classic variant MBs are by far the most frequent encountered in clinical practice, accounting for 72% of MB. […] The desmoplastic/nodular (DN) variant of MB is characterized by nodules of neurocytic differentiation with intervening embryonal elements. […] Recognition of the DN variant is important because tumors with this morphology generally are associated with intermediate clinical risk and uniformly associate with the SHH molecular group for which targeted agents may be available to some patients.
- #32 Childhood Medulloblastoma | Dana-Farber Cancer Institutehttps://www.dana-farber.org/cancer-care/types/childhood-medulloblastoma
The tissue sample obtained from surgery will be reviewed by a neuropathologist, who looks at the tumor under the microscope to confirm whether it has the features of medulloblastoma. […] If your child has medulloblastoma, your child’s physician also will perform a lumbar puncture, or spinal tap. […] Successfully treating your child’s medulloblastoma depends largely on whether the tumor can be completely removed through surgery and whether the tumor has spread to other parts of the brain or spinal cord. […] Typically, post-surgery medulloblastomas are divided into three risk assessment groups: Standard risk (no evidence of disease with a complete removal of the tumor) […] After we complete all necessary tests, our experts meet to review and discuss what they have learned about your child’s condition. Then we will meet with you and your family to discuss the results and outline the best treatment options.
- #33 Medulloblastoma: Diagnosis and Treatment – NCIhttps://www.cancer.gov/rare-brain-spine-tumor/tumors/medulloblastoma
To get an accurate diagnosis, a piece of tumor tissue will be removed during surgery, if possible. A neuropathologist should then review the tumor tissue. […] Medulloblastomas are all classified as grade 4 (also written as grade IV) tumors. This means they are malignant (cancerous) and fast-growing. […] Additionally, medulloblastomas need stagingobtaining tests to detect if the tumor has spread to other areas of the CNS or outside the CNS. […] Once the mass is diagnosed as a medulloblastoma, a magnetic resonance imaging (MRI) scan of the spinal cord can show if it has spread. […] Medulloblastomas are very fast-growing. They often spread to other areas of the CNS through CSF. Medulloblastomas can also spread outside the CNS, for example, to the bones, lungs, or lymphatic system. […] Seventy percent of medulloblastoma cases occur in children and 30 percent occur in adults.
- #34 Diagnosis of Medulloblastoma | medulloblastoma.orghttps://medulloblastoma.org/medullo-facts/diagnosis-of-medulloblastoma/
Your care team will then take all of the information theyve gathered the MRI of the brain, the MRI of the spine, the lumbar puncture results, and the results of the tumor pathology (analysis) at the lab and use it to help determine the direction for next steps in treatment. […] A pathologist looks at body tissues and performs lab tests to help your doctor reach a diagnosis. Pathologists grade brain tumors on a 1 to 4 scale. These numbers indicate how aggressive they are. Lower numbers indicate less-aggressive tumors. […] All medulloblastomas are grade 4 tumors, because they are malignant (cancerous), aggressive tumors. You may also see this written as grade IV. […] A pathologist also examines the tumor to determine its subtype. Knowing the medulloblastoma subtype provides further details on prognosis and treatment of the cancer.
- #35 Pathology, diagnostics, and classification of medulloblastomahttps://pmc.ncbi.nlm.nih.gov/articles/PMC7317787/
Medulloblastoma (MB) is the most common CNS embryonal tumor. While the overall cure rate is around 70%, patients with high-risk disease continue to have poor outcome and experience long-term morbidity. MB is among the tumors for which diagnosis, risk stratification, and clinical management has shown the most rapid advancement. […] These advances are largely due to technological improvements in diagnosis and risk stratification which now integrate histomorphologic classification and molecular classification. […] This review explores the current diagnostic and classification of MB in modern neuropathology laboratories. […] The 2007 edition of the WHO Classification of Tumors of the Central Nervous System first recognized that histologic variants of MB carried variable clinical risk. In the 2016 update, a layered approach is employed integrating morphologic and genomic data in accordance with the Haarlem guidelines for nervous system tumor classification and grading. […] The newest classification scheme separates MB into two separate general designations, MB, histologically defined and MB, genetically defined.
- #36 Pathology, diagnostics, and classification of medulloblastomahttps://pmc.ncbi.nlm.nih.gov/articles/PMC7317787/
Medulloblastoma represents one of the earliest and best characterized examples of molecular subtypes within solid tumors. […] The major molecular groups are summarized below with additional discussion of specific methodologies for molecular grouping. […] Medulloblastoma, WNT-activated tumors account for about 10%-15% of MB and typically present in older children, between the ages of 7 and 14. […] Medulloblastoma, SHH-activated tumors account for about 30% of MB and show a bimodal distribution of presentation with the first peak occurring in infants and a later peak occurring in adults and children greater than age 16. […] Medulloblastoma, non-WNT/non-SHH represents the largest molecular group of MB. […] The biology of MB in the non-WNT/non-SHH subtype is less established due to a paucity of recurrent single nucleotide variants (SNVs).
- #37 Pathology, diagnostics, and classification of medulloblastomahttps://pmc.ncbi.nlm.nih.gov/articles/PMC7317787/
Medulloblastoma represents one of the earliest and best characterized examples of molecular subtypes within solid tumors. […] The major molecular groups are summarized below with additional discussion of specific methodologies for molecular grouping. […] Medulloblastoma, WNT-activated tumors account for about 10%-15% of MB and typically present in older children, between the ages of 7 and 14. […] Medulloblastoma, SHH-activated tumors account for about 30% of MB and show a bimodal distribution of presentation with the first peak occurring in infants and a later peak occurring in adults and children greater than age 16. […] Medulloblastoma, non-WNT/non-SHH represents the largest molecular group of MB. […] The biology of MB in the non-WNT/non-SHH subtype is less established due to a paucity of recurrent single nucleotide variants (SNVs).
- #38 Orphanet: Medulloblastomahttps://www.orpha.net/en/disease/detail/616
Four different molecular subgroups (WNT-activated, sonic-hedgehog-activated, group 3, group 4) have been identified. […] Differential diagnosis includes other brain tumors (ependymoma, glial tumor, atypical teratoid rhabdoid tumor) and other causes of cerebellar alterations (infectious or cystic lesions, hemorrhages). […] Genetic counseling is indicated in specific constellations, e.g. in sonic hedgehog-activated MB (Gorlin-syndrome, Li-Fraumeni-Syndrome, BRCA2), CTNNB1-negative WNT-activated MB (Turcot-syndrome). […] The postoperative treatment depends on age, histological and molecular subgroup, and result of staging assessments (cranial and spinal MRI, assessment of lumbar cerebrospinal fluid if lumbar puncture is not contraindicated). […] The overall survival rates are now 80% in standard risk patients, and 30-60 % in high-risk patients.
- #39 Exploring the Molecular Complexity of Medulloblastoma: Implications for Diagnosis and Treatmenthttps://www.mdpi.com/2075-4418/13/14/2398
Medulloblastoma is the most common malignant brain tumor in children. Over the last few decades, significant progress has been made in revealing the key molecular underpinnings of this disease, leading to the identification of distinct molecular subgroups with different clinical outcomes. […] In this review, we provide an update on the molecular landscape of medulloblastoma and treatment strategies. We discuss the four main molecular subgroups (WNT-activated, SHH-activated, and non-WNT/non-SHH groups 3 and 4), highlighting the key genetic alterations and signaling pathways associated with each entity. […] The 2016 World Health Organization (WHO) classification system incorporated molecular entities into their diagnoses, stratifying medulloblastoma into four major subgroups: WNT-activated, sonic hedgehog (SHH), and non-WNT/non-SHH groups 3 and 4.
- #40 Pathology, diagnostics, and classification of medulloblastomahttps://pmc.ncbi.nlm.nih.gov/articles/PMC7317787/
Medulloblastoma represents one of the earliest and best characterized examples of molecular subtypes within solid tumors. […] The major molecular groups are summarized below with additional discussion of specific methodologies for molecular grouping. […] Medulloblastoma, WNT-activated tumors account for about 10%-15% of MB and typically present in older children, between the ages of 7 and 14. […] Medulloblastoma, SHH-activated tumors account for about 30% of MB and show a bimodal distribution of presentation with the first peak occurring in infants and a later peak occurring in adults and children greater than age 16. […] Medulloblastoma, non-WNT/non-SHH represents the largest molecular group of MB. […] The biology of MB in the non-WNT/non-SHH subtype is less established due to a paucity of recurrent single nucleotide variants (SNVs).
- #41 Medulloblastoma | Radiology Reference Article | Radiopaedia.orghttps://radiopaedia.org/articles/medulloblastoma?lang=us
Medulloblastomas are the most common malignant brain tumors of childhood, most often presenting as midline masses in the roof of the 4th ventricle (at the superior medullary velum) with associated mass-effect and hydrocephalus. Treatment typically consists of surgical resection, radiation therapy, and chemotherapy, with the prognosis strongly influenced by surgical resection, the presence of CSF metastases at the time of diagnosis, molecular and histological features and expression of the c-erbB-2 (HER2/neu) oncogene. […] In approximately 40% of patients, there is evidence of CSF seeding at the time of diagnosis and 5% of cases have extra-CNS metastases. […] Prognosis is most strongly influenced by molecular subtype: WNT: very good; SHH: infants good, others intermediate; group 3: poor; group 4: intermediate. […] Expression of the c-erbB-2 (HER2/neu) oncogene is useful in the staging of medulloblastomas. The increased c-erbB-2 expression reflects an increase in the proliferative activity of a tumor (widely used in breast cancer staging).
- #42 Pathology, diagnostics, and classification of medulloblastomahttps://pmc.ncbi.nlm.nih.gov/articles/PMC7317787/
Several different methods have emerged to perform molecular classification of MB in the clinical setting. […] The methods also differ in their accessibility, capital expense, and their ability to scale easily to other tumor types. […] Clinical sequencing can provide important ancillary information, augmenting the diagnosis and prognosis of MB. […] The presence of CTNNB1 mutations are pathognomonic for the WNT molecular subtype, and have diagnostic utility. […] Germline predisposition to WNT MB was nearly exclusively associated with APC abnormalities and was especially common in WNT MB lacking CTNNB1 mutations. […] Identification of TP53 abnormalities in SHH MB has important clinical implications as these tumors are associated with an especially aggressive clinical course and dismal outcomes on standard therapies.
- #43 Medulloblastoma – Symptoms, Diagnosis, TreatmentSecond Opinion IconGroup 9Second Opinion IconGroup 9Group 49https://www.barrowneuro.org/condition/medulloblastoma/
A biopsy establishes an exact diagnosis by removing a small tissue sample from the tumor, either surgically or through stereotactic biopsy, and sending it to a pathology laboratory for analysis. […] Tissue from your biopsy is frequently tested for specific genetic or molecular features because doctors classify medulloblastomas into four molecular subgroups. […] Your care team may run additional tests, such as blood panels or hearing exams, to provide more context before starting treatments and to establish a baseline hearing reference.
- #44 Pathology, diagnostics, and classification of medulloblastomahttps://pmc.ncbi.nlm.nih.gov/articles/PMC7317787/
Several different methods have emerged to perform molecular classification of MB in the clinical setting. […] The methods also differ in their accessibility, capital expense, and their ability to scale easily to other tumor types. […] Clinical sequencing can provide important ancillary information, augmenting the diagnosis and prognosis of MB. […] The presence of CTNNB1 mutations are pathognomonic for the WNT molecular subtype, and have diagnostic utility. […] Germline predisposition to WNT MB was nearly exclusively associated with APC abnormalities and was especially common in WNT MB lacking CTNNB1 mutations. […] Identification of TP53 abnormalities in SHH MB has important clinical implications as these tumors are associated with an especially aggressive clinical course and dismal outcomes on standard therapies.
- #45https://link.springer.com/article/10.1007/s11912-020-00953-4
Molecular subtyping in medulloblastoma (MB) has diagnostic and prognostic values which impact therapy. […] Medulloblastoma comprises four molecularly distinct subgroups: wingless activated (WNT), sonic hedgehog activated (SHH), group 3, and group 4. […] Risk stratification before and after the discovery of molecular subgroups aims at minimizing toxicity by reducing radiation and chemotherapy doses in low-risk patients while maintaining favorable overall survival (OS). […] The mainstay of newly diagnosed medulloblastoma treatment is surgery, radiation therapy, and chemotherapy, except for children under 6 years of age, where high-dose chemotherapy with autologous stem cell rescue is used to avoid or delay radiotherapy, preventing neurocognitive sequelae. […] Management of recurrent/refractory medulloblastoma remains a challenge with immunotherapy and small-molecule inhibitors forming the backbone of novel strategies.
- #46 Current Strategies for Management of Medulloblastomahttps://www.mdpi.com/2075-4418/13/16/2622
Medulloblastomas comprise >90% of pediatric embryonal tumors with an incidence that ranges from 5 to 11 cases per 1 million individuals. The diagnosis is based on MRI imaging of the brain and spine and confirmed with surgical histology and molecular features. Post-operative staging includes repeat cranial axis imaging and sampling of the cerebral spinal fluid for circulating tumor cells. There are now at least four molecular subgroupsâWingless-activated (WNT), Sonic Hedgehog-activated (SHH), and non-WNT/non-SHH (including Groups 3 and 4). Each has distinct molecular profiles and clinical outcomes, as currently defined in the 2021 WHO classification. In addition to the subgroups, there are between 8 and 12 subtypes, primarily involving SHH, group 3, and group 4. DNA methylation is now considered the most accurate approach for accurate diagnosis. Standard of care treatment is based upon the extent of disease burden, age, and molecular/pathology classification. In general, this includes maximal safe surgical resection, craniospinal irradiation (CSI), and cytotoxic chemotherapy, typically cyclophosphamide, lomustine, cisplatin, and vincristine combinations. Younger children are treated with intensive chemotherapy following surgery, with the goal to avoid radiotherapy with its attendant neurocognitive late effects. Outcomes generally are based on prognostic factors. Overall survival typically is 80% for average risk (total or near total resection and no metastatic disease) and 60% for high-risk disease (all others). Lower survivals globally from low-and middle-income countries are due to the limitation of resources. These outcomes are not insurmountable, however, as reported, India has shown 5-year 62% survival for high-risk disease, similar to those reported in North America and Europe. Relapsed medulloblastoma is often incurable. Long-term survival continues to be problematic due to secondary neoplasms and other treatment-related chronic medical toxicities, with a reported 15-year mortality rate of over 20%. Medulloblastoma can also arise in the setting of hereditary cancer predisposition syndromes. Germline mutations occur in approximately 5% of all patients diagnosed with medulloblastoma. Mutations have been identified in APC, BRCA2, PALB2, PTCH1, SUFU, and TP53. Testing for germline alterations is becoming more prevalent and has implications for long-term follow-up of both the patient and family members. Typical alterations are shown in Table 3. Thus, the intent of therapy is both overall survival benefits, as well as improved quality of life.
- #47 Medulloblastoma: Diagnosis and Treatment – NCIhttps://www.cancer.gov/rare-brain-spine-tumor/tumors/medulloblastoma
To get an accurate diagnosis, a piece of tumor tissue will be removed during surgery, if possible. A neuropathologist should then review the tumor tissue. […] Medulloblastomas are all classified as grade 4 (also written as grade IV) tumors. This means they are malignant (cancerous) and fast-growing. […] Additionally, medulloblastomas need stagingobtaining tests to detect if the tumor has spread to other areas of the CNS or outside the CNS. […] Once the mass is diagnosed as a medulloblastoma, a magnetic resonance imaging (MRI) scan of the spinal cord can show if it has spread. […] Medulloblastomas are very fast-growing. They often spread to other areas of the CNS through CSF. Medulloblastomas can also spread outside the CNS, for example, to the bones, lungs, or lymphatic system. […] Seventy percent of medulloblastoma cases occur in children and 30 percent occur in adults.
- #48 Medulloblastoma Diagnosis | MD Anderson Cancer Centerhttps://www.mdanderson.org/cancer-types/medulloblastoma/medulloblastoma-diagnosis.html
In addition to tumor removal, additional tests are required to evaluate how much the disease has spread from its original site and decide the best course of treatment. These tests include: A brain MRI obtained after tumor removal, A whole spine MRI, A spinal tap, or lumbar puncture. During this procedure, a small amount of cerebrospinal fluid (clear liquid in and around the brain and spine) is removed with a needle from the spinal canal. It is then examined with a microscope to determine if tumor cells have spread into the cerebrospinal fluid. A CT or a PET scan of the body may be needed in some cases to determine if the tumor has spread outside of the nervous system.
- #49 Medulloblastoma – Diagnosis and treatment – Mayo Clinichttps://www.mayoclinic.org/diseases-conditions/medulloblastoma/diagnosis-treatment/drc-20579280
Removal of cerebrospinal fluid for testing. A spinal tap, also called a lumbar puncture, involves inserting a needle between two bones in the lower spine. The needle draws out cerebrospinal fluid from around the spinal cord. The fluid is tested in a lab to look for tumor cells. This test is only done after managing the pressure in the brain or removing the tumor.
- #50 Diagnosis of Medulloblastoma | medulloblastoma.orghttps://medulloblastoma.org/medullo-facts/diagnosis-of-medulloblastoma/
Medulloblastoma is the most common malignant brain tumor in children, with about 400-500 new diagnoses per year in the United States. […] The signs and symptoms of medulloblastoma prompt an evaluation that includes a neurological exam by a doctor, as well as magnetic resonance imaging (MRI). Sometimes a computed tomography (CT) scan is also ordered. […] Most often a lumbar puncture (spinal tap) will also be done. This involves collecting cerebrospinal fluid for testing to see if medulloblastoma cells are floating in the spinal fluid. […] Surgery is required to diagnose medulloblastoma, and is also the first treatment. The goal is to remove as much of the tumor as possible. This is often referred to as tumor resection. […] After the tumor has been removed, a portion of it will be sent to a lab for testing.
- #51 Pediatric Medulloblastoma Workup: Laboratory Studies, Imaging Studies, Other Testshttps://emedicine.medscape.com/article/987886-workup
Preoperative and postoperative MRI is required for detection and measurement of residual disease following surgical resection. Postoperative MRI evaluation should be performed within 72 hours of surgery to delineate residual tumor from the postsurgical inflammatory changes that are visualized on MRI at this time. […] Spinal MRI is the most sensitive method available for detection of spinal cord metastasis. […] Because medulloblastoma can metastasize outside the CNS, especially to bone, a bone scan with plain film correlation may be useful in symptomatic patients. […] A baseline hearing test (audiography or brainstem auditory-evoked response [BAER]) is recommended because of the potential toxicity from radiation and chemotherapy. […] CSF cytologic examination is useful for the detection of microscopic leptomeningeal tumor dissemination. However, neither clinical symptoms nor negative CSF cytologic findings can be relied on to indicate the presence of nodular spinal cord disease. […] Staging is based on the extent of tumor at the time of diagnosis and the degree of surgical resection. Complete staging requires pre- and postoperative MRI of the entire brain and spine, postoperative MRI of the tumor site, and CSF analysis.
- #52 Pediatric Medulloblastoma Workup: Laboratory Studies, Imaging Studies, Other Testshttps://emedicine.medscape.com/article/987886-workup
Preoperative and postoperative MRI is required for detection and measurement of residual disease following surgical resection. Postoperative MRI evaluation should be performed within 72 hours of surgery to delineate residual tumor from the postsurgical inflammatory changes that are visualized on MRI at this time. […] Spinal MRI is the most sensitive method available for detection of spinal cord metastasis. […] Because medulloblastoma can metastasize outside the CNS, especially to bone, a bone scan with plain film correlation may be useful in symptomatic patients. […] A baseline hearing test (audiography or brainstem auditory-evoked response [BAER]) is recommended because of the potential toxicity from radiation and chemotherapy. […] CSF cytologic examination is useful for the detection of microscopic leptomeningeal tumor dissemination. However, neither clinical symptoms nor negative CSF cytologic findings can be relied on to indicate the presence of nodular spinal cord disease. […] Staging is based on the extent of tumor at the time of diagnosis and the degree of surgical resection. Complete staging requires pre- and postoperative MRI of the entire brain and spine, postoperative MRI of the tumor site, and CSF analysis.
- #53 Childhood Medulloblastoma & Other CNS Embryonal Tumors Treatment – NCIhttps://www.cancer.gov/types/brain/patient/child-cns-embryonal-treatment-pdq
If doctors think your child may have medulloblastoma, another type of CNS embryonal tumor, or pineoblastoma, a biopsy may be done. […] The results of the tests and procedures done to diagnose medulloblastoma, other CNS embryonal tumors, and pineoblastoma in children are used to plan cancer treatment. […] Sometimes childhood medulloblastoma and other central nervous system embryonal tumors come back after treatment.
- #54 Medulloblastoma Diagnosis | MD Anderson Cancer Centerhttps://www.mdanderson.org/cancer-types/medulloblastoma/medulloblastoma-diagnosis.html
In addition to tumor removal, additional tests are required to evaluate how much the disease has spread from its original site and decide the best course of treatment. These tests include: A brain MRI obtained after tumor removal, A whole spine MRI, A spinal tap, or lumbar puncture. During this procedure, a small amount of cerebrospinal fluid (clear liquid in and around the brain and spine) is removed with a needle from the spinal canal. It is then examined with a microscope to determine if tumor cells have spread into the cerebrospinal fluid. A CT or a PET scan of the body may be needed in some cases to determine if the tumor has spread outside of the nervous system.
- #55 Pediatric Medulloblastoma Workup: Laboratory Studies, Imaging Studies, Other Testshttps://emedicine.medscape.com/article/987886-workup
Preoperative and postoperative MRI is required for detection and measurement of residual disease following surgical resection. Postoperative MRI evaluation should be performed within 72 hours of surgery to delineate residual tumor from the postsurgical inflammatory changes that are visualized on MRI at this time. […] Spinal MRI is the most sensitive method available for detection of spinal cord metastasis. […] Because medulloblastoma can metastasize outside the CNS, especially to bone, a bone scan with plain film correlation may be useful in symptomatic patients. […] A baseline hearing test (audiography or brainstem auditory-evoked response [BAER]) is recommended because of the potential toxicity from radiation and chemotherapy. […] CSF cytologic examination is useful for the detection of microscopic leptomeningeal tumor dissemination. However, neither clinical symptoms nor negative CSF cytologic findings can be relied on to indicate the presence of nodular spinal cord disease. […] Staging is based on the extent of tumor at the time of diagnosis and the degree of surgical resection. Complete staging requires pre- and postoperative MRI of the entire brain and spine, postoperative MRI of the tumor site, and CSF analysis.
- #56 Childhood Medulloblastoma Diagnosis & Treatment – NYC | Columbia Neurosurgery in New York Cityhttps://www.neurosurgery.columbia.edu/patient-care/conditions/childhood-medulloblastoma
Childhood medulloblastomas, which form primarily in the cerebellum, are the most common type of malignant brain tumor among children. The standard treatment for children with medulloblastoma usually involves a combination of craniotomy, tumor removal, radiation therapy and/or chemotherapy. […] If a brain tumor is suspected, then imaging tests are ordered to provide a diagnosis. […] The preferred imaging test is usually magnetic resonance imaging (MRI), particularly because the test visualizes the spinal cord, an area to which childhood medulloblastomas can metastasize. […] Although imaging tests may strongly suggest a brain tumor, a biopsy must be performed during surgery to confirm the tumor is indeed medulloblastoma. […] To determine whether the childhood medulloblastoma has spread through the cerebrospinal fluid, a lumbar puncture can be performed. […] To identify bone metastasis, a bone scan is often conducted for children who have bone pain in addition to medulloblastoma.
- #57 Childhood Medulloblastoma | Dana-Farber Cancer Institutehttps://www.dana-farber.org/cancer-care/types/childhood-medulloblastoma
The tissue sample obtained from surgery will be reviewed by a neuropathologist, who looks at the tumor under the microscope to confirm whether it has the features of medulloblastoma. […] If your child has medulloblastoma, your child’s physician also will perform a lumbar puncture, or spinal tap. […] Successfully treating your child’s medulloblastoma depends largely on whether the tumor can be completely removed through surgery and whether the tumor has spread to other parts of the brain or spinal cord. […] Typically, post-surgery medulloblastomas are divided into three risk assessment groups: Standard risk (no evidence of disease with a complete removal of the tumor) […] After we complete all necessary tests, our experts meet to review and discuss what they have learned about your child’s condition. Then we will meet with you and your family to discuss the results and outline the best treatment options.
- #58 Current Strategies for Management of Medulloblastomahttps://www.mdpi.com/2075-4418/13/16/2622
Medulloblastomas comprise >90% of pediatric embryonal tumors with an incidence that ranges from 5 to 11 cases per 1 million individuals. The diagnosis is based on MRI imaging of the brain and spine and confirmed with surgical histology and molecular features. Post-operative staging includes repeat cranial axis imaging and sampling of the cerebral spinal fluid for circulating tumor cells. There are now at least four molecular subgroupsâWingless-activated (WNT), Sonic Hedgehog-activated (SHH), and non-WNT/non-SHH (including Groups 3 and 4). Each has distinct molecular profiles and clinical outcomes, as currently defined in the 2021 WHO classification. In addition to the subgroups, there are between 8 and 12 subtypes, primarily involving SHH, group 3, and group 4. DNA methylation is now considered the most accurate approach for accurate diagnosis. Standard of care treatment is based upon the extent of disease burden, age, and molecular/pathology classification. In general, this includes maximal safe surgical resection, craniospinal irradiation (CSI), and cytotoxic chemotherapy, typically cyclophosphamide, lomustine, cisplatin, and vincristine combinations. Younger children are treated with intensive chemotherapy following surgery, with the goal to avoid radiotherapy with its attendant neurocognitive late effects. Outcomes generally are based on prognostic factors. Overall survival typically is 80% for average risk (total or near total resection and no metastatic disease) and 60% for high-risk disease (all others). Lower survivals globally from low-and middle-income countries are due to the limitation of resources. These outcomes are not insurmountable, however, as reported, India has shown 5-year 62% survival for high-risk disease, similar to those reported in North America and Europe. Relapsed medulloblastoma is often incurable. Long-term survival continues to be problematic due to secondary neoplasms and other treatment-related chronic medical toxicities, with a reported 15-year mortality rate of over 20%. Medulloblastoma can also arise in the setting of hereditary cancer predisposition syndromes. Germline mutations occur in approximately 5% of all patients diagnosed with medulloblastoma. Mutations have been identified in APC, BRCA2, PALB2, PTCH1, SUFU, and TP53. Testing for germline alterations is becoming more prevalent and has implications for long-term follow-up of both the patient and family members. Typical alterations are shown in Table 3. Thus, the intent of therapy is both overall survival benefits, as well as improved quality of life.
- #59 Childhood Medulloblastoma | Dana-Farber Cancer Institutehttps://www.dana-farber.org/cancer-care/types/childhood-medulloblastoma
The tissue sample obtained from surgery will be reviewed by a neuropathologist, who looks at the tumor under the microscope to confirm whether it has the features of medulloblastoma. […] If your child has medulloblastoma, your child’s physician also will perform a lumbar puncture, or spinal tap. […] Successfully treating your child’s medulloblastoma depends largely on whether the tumor can be completely removed through surgery and whether the tumor has spread to other parts of the brain or spinal cord. […] Typically, post-surgery medulloblastomas are divided into three risk assessment groups: Standard risk (no evidence of disease with a complete removal of the tumor) […] After we complete all necessary tests, our experts meet to review and discuss what they have learned about your child’s condition. Then we will meet with you and your family to discuss the results and outline the best treatment options.
- #60 Medulloblastoma in children: diagnosis and therapy – Medizinonlinehttps://medizinonline.com/en/medulloblastoma-in-children-diagnosis-and-therapy/
Detection of leptomeningeal metastases at diagnosis was found to be most prognostically significant, followed by residual tumor mass and patient age at diagnosis. […] These clinical factors were used to divide MB patients into a standard risk group (no metastases, 1.5 cm2 residual tumor mass, patient age at diagnosis 3 years) and a high risk group (metastases, 1.5 cm2 residual tumor mass, and patient age at diagnosis3 years). […] Serial analysis of gene expression on several hundred MBs has allowed identification of molecular subsets of MB in recent years. […] Currently, MB are classified into four subgroups (Wnt/Wingless=WNT, Sonic hedgehog=SHH, Group 3, Group 4) according to molecular biological criteria. […] These subgroups also differ in epidemiological and clinical criteria.
- #61 Medulloblastomas | EBSCO Research Startershttps://www.ebsco.com/research-starters/health-and-medicine/medulloblastomas
Two risk groups are used in childhood medulloblastoma to determine treatment management rather than the adult staging process. The average risk group and the poor risk group are differentiated based on the tumor remaining after surgery, the spread of cancer cells within the brain and spinal cord, or the distant spread of tumor cells to other parts of the body. Adults are staged based on the remaining tumor and whether the tumor has spread using the TNM (tumor/lymph node/metastasis) staging system.
- #62 Pathology, diagnostics, and classification of medulloblastomahttps://pmc.ncbi.nlm.nih.gov/articles/PMC7317787/
Combining our accumulated knowledge of MB, the standard of care for neuropathologic evaluation has changed dramatically over recent years. […] All pertinent findings related to the histologic classification, genetic definitions, risk-stratifying molecular findings, and genomic abnormalities should be combined into an integrated report according the standards proposed by the Haarlem consensus conference. […] International collaboration has led to advanced understanding of the biology and molecular underpinnings of MB. […] Real progress will come from integration of molecular testing into risk-adapted or targeted clinical trials, to improve survival and reduce long-term treatment-related morbidity by matching molecular groups to appropriate therapies.
- #63https://link.springer.com/article/10.1007/s11912-020-00953-4
Molecular subtyping in medulloblastoma (MB) has diagnostic and prognostic values which impact therapy. […] Medulloblastoma comprises four molecularly distinct subgroups: wingless activated (WNT), sonic hedgehog activated (SHH), group 3, and group 4. […] Risk stratification before and after the discovery of molecular subgroups aims at minimizing toxicity by reducing radiation and chemotherapy doses in low-risk patients while maintaining favorable overall survival (OS). […] The mainstay of newly diagnosed medulloblastoma treatment is surgery, radiation therapy, and chemotherapy, except for children under 6 years of age, where high-dose chemotherapy with autologous stem cell rescue is used to avoid or delay radiotherapy, preventing neurocognitive sequelae. […] Management of recurrent/refractory medulloblastoma remains a challenge with immunotherapy and small-molecule inhibitors forming the backbone of novel strategies.
- #64 Medulloblastoma | Radiology Reference Article | Radiopaedia.orghttps://radiopaedia.org/articles/medulloblastoma?lang=us
Medulloblastomas are the most common malignant brain tumors of childhood, most often presenting as midline masses in the roof of the 4th ventricle (at the superior medullary velum) with associated mass-effect and hydrocephalus. Treatment typically consists of surgical resection, radiation therapy, and chemotherapy, with the prognosis strongly influenced by surgical resection, the presence of CSF metastases at the time of diagnosis, molecular and histological features and expression of the c-erbB-2 (HER2/neu) oncogene. […] In approximately 40% of patients, there is evidence of CSF seeding at the time of diagnosis and 5% of cases have extra-CNS metastases. […] Prognosis is most strongly influenced by molecular subtype: WNT: very good; SHH: infants good, others intermediate; group 3: poor; group 4: intermediate. […] Expression of the c-erbB-2 (HER2/neu) oncogene is useful in the staging of medulloblastomas. The increased c-erbB-2 expression reflects an increase in the proliferative activity of a tumor (widely used in breast cancer staging).
- #65 Pathology, diagnostics, and classification of medulloblastomahttps://pmc.ncbi.nlm.nih.gov/articles/PMC7317787/
Several different methods have emerged to perform molecular classification of MB in the clinical setting. […] The methods also differ in their accessibility, capital expense, and their ability to scale easily to other tumor types. […] Clinical sequencing can provide important ancillary information, augmenting the diagnosis and prognosis of MB. […] The presence of CTNNB1 mutations are pathognomonic for the WNT molecular subtype, and have diagnostic utility. […] Germline predisposition to WNT MB was nearly exclusively associated with APC abnormalities and was especially common in WNT MB lacking CTNNB1 mutations. […] Identification of TP53 abnormalities in SHH MB has important clinical implications as these tumors are associated with an especially aggressive clinical course and dismal outcomes on standard therapies.
- #66 Pathology, diagnostics, and classification of medulloblastomahttps://pmc.ncbi.nlm.nih.gov/articles/PMC7317787/
Combining our accumulated knowledge of MB, the standard of care for neuropathologic evaluation has changed dramatically over recent years. […] All pertinent findings related to the histologic classification, genetic definitions, risk-stratifying molecular findings, and genomic abnormalities should be combined into an integrated report according the standards proposed by the Haarlem consensus conference. […] International collaboration has led to advanced understanding of the biology and molecular underpinnings of MB. […] Real progress will come from integration of molecular testing into risk-adapted or targeted clinical trials, to improve survival and reduce long-term treatment-related morbidity by matching molecular groups to appropriate therapies.
- #67 Liquid Biopsy of Cerebrospinal Fluid for Diagnosis of Medulloblastoma – molecular-diagnostics – Labmedica.comhttps://www.labmedica.com/molecular-diagnostics/articles/294791843/liquid-biopsy-of-cerebrospinal-fluid-for-diagnosis-of-medulloblastoma.html
A recent study found that young patients with the aggressive brain cancer medulloblastoma have a unique molecular makeup in their cerebrospinal fluid, which might be useful for diagnosis and monitoring the presence of a tumor in the central nervous system. […] The current diagnosis of MB is based on clinical assessment, imaging, and subsequent histopathological examination of biopsies, with magnetic resonance imaging (MRI) and lumbar puncture often performed to monitor treatment responses and to detect recurrences. […] Investigators at the Johns Hopkins University School of Medicine proposed that liquid biopsy of CSF could provide a relatively non-invasive means for diagnosis of MB. […] Results revealed that 110 genes and 10 circular RNAs were differentially expressed in MB CSF compared with normal, representing TGF-beta signaling, TNF-alpha signaling via NF-kappaB, and adipogenesis pathways.
- #68 Liquid Biopsy of Cerebrospinal Fluid for Diagnosis of Medulloblastoma – molecular-diagnostics – Labmedica.comhttps://www.labmedica.com/molecular-diagnostics/articles/294791843/liquid-biopsy-of-cerebrospinal-fluid-for-diagnosis-of-medulloblastoma.html
Although the analysis could not distinguish among the four subtypes of medulloblastoma, the results could be used to identify the presence of cancer versus normal fluid. […] „Our study provides proof of principle that all three molecular approachesstudying RNA, lipids, and metabolitescan be successfully applied to cerebrospinal fluid samples, not only to differentiate medulloblastoma patients from those without the disease, but also to provide new insights into the pathobiology of the disease.”
- #69 New scan technique gives children the right medulloblastoma diagnosis in minutes, not weeks – Cancer Research UK – Cancer Newsfacebook icontwitter iconlinkedin iconfacebook icontwitter iconinstagram iconlinkedin iconyoutube iconfundraising regulator iconhttps://news.cancerresearchuk.org/2024/06/10/better-medulloblastoma-treatments-faster-mri-diagnosis/
Now, a team co-led by Professor Andrew Peet, a researcher and cancer doctor at the University of Birmingham, may have found a way to do it as soon as children arrive in hospital. That means faster, better planned treatments and less time spent trying to catch up with cancer. […] Instead of surgery, the new technique works with the MRI scans doctors already use to locate tumours. It takes minutes, not weeks. […] This type of research is improving things, Peet continues. Knowing the disease earlier on, knowing more about it, being able to refine your treatment and getting to treatment quicker â those are the cornerstones of good cancer care. […] When Jack arrived at hospital, his doctors were able to use an MRI scan to find his tumour and guide his surgery. Testing Jackâs tumour took a long, anxious time, but it meant they could find out his medulloblastoma subtype and decide what to do next.
- #70 New scan technique gives children the right medulloblastoma diagnosis in minutes, not weeks – Cancer Research UK – Cancer Newsfacebook icontwitter iconlinkedin iconfacebook icontwitter iconinstagram iconlinkedin iconyoutube iconfundraising regulator iconhttps://news.cancerresearchuk.org/2024/06/10/better-medulloblastoma-treatments-faster-mri-diagnosis/
Peetâs technique works because each subtype of medulloblastoma uses energy differently. Scientifically speaking, they have different metabolisms. […] Since doctors have been able to divide medulloblastomas into different groups, theyâve realised that children and young people with wingless (WNT) medulloblastoma are more likely to respond to treatment. […] The teamâs new technique means glutamate levels are visible on MRI scans today. And there are already drugs with the potential to interfere with it. This research isnât just helping doctors match children and young people to the same treatments faster; itâs revealing even better ones.
- #71https://braintumourresearch.org/blogs/latest-news/new-research-could-speed-up-medulloblastoma-diagnosis?srsltid=AfmBOoowB-Ol0IMsu9W3KTwwAEjsfY4HZicOaJJozJ-STw7x7KHHSpJs
New research could see children receive an accurate brain tumour diagnosis in as little as 10 minutes. […] Currently, patients have to undergo surgery so that a biopsy can be taken to classify their tumour and determine the prognosis and course of treatment. […] The study published in eBiomedicine found that, using MRI scanners with artificial intelligence, it was possible to identify the tumour without the need for a biopsy. […] Dr Karen Noble, our Director of Research, Policy and Innovation, said: Currently, children can wait approximately four weeks for a full diagnosis. By removing the need for biopsy and subsequent profiling, this simple imaging test could drastically reduce the current wait times, meaning children are diagnosed sooner and can start on the best course of treatment quicker.
- #72 Pathology, diagnostics, and classification of medulloblastomahttps://pmc.ncbi.nlm.nih.gov/articles/PMC7317787/
Combining our accumulated knowledge of MB, the standard of care for neuropathologic evaluation has changed dramatically over recent years. […] All pertinent findings related to the histologic classification, genetic definitions, risk-stratifying molecular findings, and genomic abnormalities should be combined into an integrated report according the standards proposed by the Haarlem consensus conference. […] International collaboration has led to advanced understanding of the biology and molecular underpinnings of MB. […] Real progress will come from integration of molecular testing into risk-adapted or targeted clinical trials, to improve survival and reduce long-term treatment-related morbidity by matching molecular groups to appropriate therapies.
- #73 Exploring the Molecular Complexity of Medulloblastoma: Implications for Diagnosis and Treatmenthttps://www.mdpi.com/2075-4418/13/14/2398
These subgroups not only demonstrate the profound genetic heterogeneity among this tumor type but are imperative to profile molecularly driven treatment strategies and outcomes. […] Current treatment regimens are now designated not only by age and metastatic and resection status but by medulloblastoma subtype as well. […] The most recent treatment regimens are based upon the four principal subgroups from the 2016 WHO classification system. […] A paradigm shift toward personalized targeted therapy for medulloblastoma that aims to reduce the side effects of standard cytotoxic agents without compromising therapeutic efficacy is now favored and pursued. […] Although personalized treatments for each medulloblastoma subgroup and subtype are still in their infancy, some driver mutations and inhibitors that target these mutations or interfere with aberrant signaling pathways have been discovered in WNT-activated and SHH-activated tumors and are undergoing extensive in vitro and in vivo testing.
- #74 Current Strategies for Management of Medulloblastomahttps://www.mdpi.com/2075-4418/13/16/2622
Medulloblastomas comprise >90% of pediatric embryonal tumors with an incidence that ranges from 5 to 11 cases per 1 million individuals. The diagnosis is based on MRI imaging of the brain and spine and confirmed with surgical histology and molecular features. Post-operative staging includes repeat cranial axis imaging and sampling of the cerebral spinal fluid for circulating tumor cells. There are now at least four molecular subgroupsâWingless-activated (WNT), Sonic Hedgehog-activated (SHH), and non-WNT/non-SHH (including Groups 3 and 4). Each has distinct molecular profiles and clinical outcomes, as currently defined in the 2021 WHO classification. In addition to the subgroups, there are between 8 and 12 subtypes, primarily involving SHH, group 3, and group 4. DNA methylation is now considered the most accurate approach for accurate diagnosis. Standard of care treatment is based upon the extent of disease burden, age, and molecular/pathology classification. In general, this includes maximal safe surgical resection, craniospinal irradiation (CSI), and cytotoxic chemotherapy, typically cyclophosphamide, lomustine, cisplatin, and vincristine combinations. Younger children are treated with intensive chemotherapy following surgery, with the goal to avoid radiotherapy with its attendant neurocognitive late effects. Outcomes generally are based on prognostic factors. Overall survival typically is 80% for average risk (total or near total resection and no metastatic disease) and 60% for high-risk disease (all others). Lower survivals globally from low-and middle-income countries are due to the limitation of resources. These outcomes are not insurmountable, however, as reported, India has shown 5-year 62% survival for high-risk disease, similar to those reported in North America and Europe. Relapsed medulloblastoma is often incurable. Long-term survival continues to be problematic due to secondary neoplasms and other treatment-related chronic medical toxicities, with a reported 15-year mortality rate of over 20%. Medulloblastoma can also arise in the setting of hereditary cancer predisposition syndromes. Germline mutations occur in approximately 5% of all patients diagnosed with medulloblastoma. Mutations have been identified in APC, BRCA2, PALB2, PTCH1, SUFU, and TP53. Testing for germline alterations is becoming more prevalent and has implications for long-term follow-up of both the patient and family members. Typical alterations are shown in Table 3. Thus, the intent of therapy is both overall survival benefits, as well as improved quality of life.
- #75 Orphanet: Medulloblastomahttps://www.orpha.net/en/disease/detail/616
Four different molecular subgroups (WNT-activated, sonic-hedgehog-activated, group 3, group 4) have been identified. […] Differential diagnosis includes other brain tumors (ependymoma, glial tumor, atypical teratoid rhabdoid tumor) and other causes of cerebellar alterations (infectious or cystic lesions, hemorrhages). […] Genetic counseling is indicated in specific constellations, e.g. in sonic hedgehog-activated MB (Gorlin-syndrome, Li-Fraumeni-Syndrome, BRCA2), CTNNB1-negative WNT-activated MB (Turcot-syndrome). […] The postoperative treatment depends on age, histological and molecular subgroup, and result of staging assessments (cranial and spinal MRI, assessment of lumbar cerebrospinal fluid if lumbar puncture is not contraindicated). […] The overall survival rates are now 80% in standard risk patients, and 30-60 % in high-risk patients.
- #76 Medulloblastoma Diagnosis | Expert Surgeon | Aaron Cohen-Gadol, MD | Aaron Cohen-Gadol, MDhttps://www.aaroncohen-gadol.com/en/patients/medulloblastoma/types/diagnosis
Early diagnosis of medulloblastoma can significantly impact the prognosis and treatment success. […] Patients diagnosed at an earlier stage may experience better outcomes, as treatments can be more effective when the tumor has not yet caused extensive damage or spread. […] Diagnosing medulloblastoma is a complex process that involves a team of healthcare professionals, including neurologists, neurosurgeons, oncologists, radiologists, and pathologists. […] Early recognition of symptoms like persistent headaches, nausea, balance problems, and vision changes is crucial for timely diagnosis. […] MRI is the primary imaging tool used to diagnose medulloblastoma, offering detailed views of the brain and spinal cord. […] Biopsies and molecular testing are essential for confirming the diagnosis and understanding the specific type and characteristics of the tumor, which helps guide treatment. […] Early detection improves outcomes, making it essential for patients and caregivers to seek medical attention for persistent or concerning symptoms.
- #77 Medulloblastoma Diagnosis and Treatment | IntechOpenhttps://www.intechopen.com/chapters/1185809
In conclusion, the complex diagnostic pathway for MB necessitates a multidisciplinary approach encompassing clinical, radiological, histological, and molecular assessments. By integrating these diverse modalities, healthcare providers can achieve a comprehensive understanding of tumor biology, guide personalized treatment strategies, and optimize patient outcomes in managing this formidable pediatric brain malignancy.
- #78 Medulloblastoma: Diagnosis and Treatment – NCIhttps://www.cancer.gov/rare-brain-spine-tumor/tumors/medulloblastoma
The relative five-year survival rate for medulloblastoma is 80.6 percent. However, many factors can affect prognosis. […] The first treatment for medulloblastoma is surgery, if possible. The goal of surgery is to obtain tissue to determine the tumor type and remove as much tumor as possible without causing more symptoms for the person. […] Most people with medulloblastomas also receive additional treatments. These may include radiation, chemotherapy, or clinical trials.
- #79 Medulloblastoma: Symptoms, Causes & Treatmenthttps://my.clevelandclinic.org/health/diseases/22591-medulloblastoma
Your healthcare provider may take a tissue sample and send it to a pathologist for testing. […] A surgeon takes a sample of cerebrospinal fluid to test it for cancer cells. […] The most common medulloblastoma treatment involves surgery followed by chemotherapy, radiation therapy or both. […] Your oncologist may give you chemotherapy drugs after surgery, after radiation therapy or in combination with radiation therapy. […] This treatment can get rid of cancer cells that remain after surgery. […] A neurosurgeon can do surgery to relieve the pressure buildup on your brain or to remove the tumor. […] If you or your child develops a combination of symptoms like headaches, nausea, confusion or vision changes, schedule an appointment with a healthcare provider. […] While medulloblastoma has the potential to spread throughout your entire nervous system, many people can be cured. […] The five-year medulloblastoma survival rate is over 80%.
- #80 Pathology, diagnostics, and classification of medulloblastomahttps://pmc.ncbi.nlm.nih.gov/articles/PMC7317787/
Combining our accumulated knowledge of MB, the standard of care for neuropathologic evaluation has changed dramatically over recent years. […] All pertinent findings related to the histologic classification, genetic definitions, risk-stratifying molecular findings, and genomic abnormalities should be combined into an integrated report according the standards proposed by the Haarlem consensus conference. […] International collaboration has led to advanced understanding of the biology and molecular underpinnings of MB. […] Real progress will come from integration of molecular testing into risk-adapted or targeted clinical trials, to improve survival and reduce long-term treatment-related morbidity by matching molecular groups to appropriate therapies.
- #81 Exploring the Molecular Complexity of Medulloblastoma: Implications for Diagnosis and Treatmenthttps://www.mdpi.com/2075-4418/13/14/2398
The biology of non-WNT/non-SHH group 3 and 4 tumors is not as well understood, which currently limits the application of novel targeted therapies to some general genetic and epigenetic targets. […] Treatment resistance in medulloblastoma presents an ongoing challenge despite the increasing molecular understanding of medulloblastoma subtypes and oncogenic drivers. […] Recently, efforts have been made to identify transcriptional, genetic, and epigenetic drivers of treatment resistance in the current standard treatment. […] Considering that the failure of progenitor stem cells to differentiate during hindbrain maturation is thought to be the cause of medulloblastoma, CSCs are likely to coincide with the medulloblastoma cells of origin. […] Future medulloblastoma research will profile personalized treatments for each individual patient based on molecular risk stratification of the disease with the hope of improving survival and reducing relapses.