Ependymoma
Etiologia i przyczyny

Ependymoma to pierwotny nowotwór ośrodkowego układu nerwowego, rozwijający się z komórek ependymalnych lub prekursorów gleju promienistego, zlokalizowany w mózgu lub rdzeniu kręgowym. Patogeneza obejmuje złożone zmiany genetyczne, w tym translokacje, monosomię chromosomu 22 (w 26-71% przypadków), gain chromosomu 1q (częsty w dziecięcych ependymoma śródczaszkowych) oraz inaktywację genu NF2 (w 29-38% ependymoma rdzenia kręgowego). Molekularne profile różnią się w zależności od lokalizacji guza: ependymoma nadnamiotowe często wykazują fuzję ZFTA::RELA i pochodzą z komórek gleju promienistego, co wiąże się z gorszym rokowaniem, natomiast ependymoma podnamiotowe i rdzeniowe mają odrębne profile genetyczne i różne zachowanie biologiczne. Deregulacja szlaków sygnałowych Notch i EPHB-Ephrin, a także zwiększona ekspresja hTERT, odgrywają kluczową rolę w tumorogenezie.

Etiologia ependymoma

Ependymoma to rzadki typ guza, który rozwija się w mózgu lub rdzeniu kręgowym. Jest to nowotwór pierwotny ośrodkowego układu nerwowego (OUN), co oznacza, że rozpoczyna się bezpośrednio w mózgu lub rdzeniu kręgowym, a nie rozprzestrzenia się do tych obszarów z innych części ciała12. Mimo wielu badań, dokładne przyczyny powstawania ependymoma nie są w pełni poznane. Obecny stan wiedzy wskazuje na złożony mechanizm patogenetyczny, który może obejmować różne czynniki genetyczne i molekularne.

Pochodzenie komórkowe ependymoma

Ependymoma rozwija się z komórek wyściełających układ komorowy mózgu i kanał centralny rdzenia kręgowego, zwanych komórkami ependymalnymi12. Jednak nowsze badania sugerują, że guzy te mogą wywoływać się z komórek radialnej gleju (radial glial cells), które są prekursorami komórek ependymalnych12. Zmienione onkogenetycznie komórki gleju promienistego uważane są za potencjalne źródło ependymoma nadnamiotowego, podczas gdy nowotwory ependymoma tylnego dołu czaszki mogą pochodzić z komórek podobnych do komórek macierzystych1.

Badania z wykorzystaniem sekwencjonowania RNA pojedynczych komórek wykazały, że w obrębie wszystkich głównych grup molekularnych ependymoma występują hierarchiczne populacje komórkowe, w tym niezróżnicowane komórki macierzyste układu nerwowego, komórki gleju promienistego oraz bardziej zróżnicowane komórki w kierunku linii ependymalnych, astrocytarnych i neuronalnych1. Odsetek niezróżnicowanych lub mniej zróżnicowanych komórek koreluje z gorszym rokowaniem i zwiększonym ryzykiem nawrotu1.

Zmiany genetyczne w ependymoma

Ependymoma powstaje, gdy komórki w mózgu lub rdzeniu kręgowym rozwijają zmiany w swoim DNA12. DNA komórki zawiera instrukcje, które określają jej funkcje. W zdrowych komórkach DNA dostarcza instrukcje dotyczące wzrostu i namnażania się w określonym tempie oraz obumierania w określonym czasie. W komórkach nowotworowych zmiany DNA powodują inne instrukcje – komórki guza rosną i mnożą się szybko, a także mogą dalej żyć, gdy zdrowe komórki by obumarły. Prowadzi to do nadmiernego nagromadzenia komórek1.

Zidentyfikowano kilka charakterystycznych nieprawidłowości genetycznych związanych z ependymoma, które obejmują duże obszary genomu12. Nieprawidłowości chromosomalne odgrywają istotną rolę w rozwoju ependymoma. Najczęściej obserwowane zmiany to:

  • Translokacja, częściowa utrata lub monosomia chromosomu 22, występująca w 26-71% przypadków ependymoma1
  • Gain chromosomu 1q, będący znaczącym prognostykiem agresywności guza, często wykrywany w dziecięcych ependymoma śródczaszkowych1
  • Monosomia 22 (obecność tylko jednego chromosomu 22 zamiast dwóch) widoczna w 30-70% guzów1
  • Przybywanie materiału genetycznego na chromosomach 1 i 91
  • Utrata materiału genetycznego na chromosomach 10, 16, 21 i 221
  • Modyfikacje w członkach rodziny białka 4.1, które wpływają zarówno na DNA, jak i białko1
  • Inaktywacja genu NF2 w 29-38% ependymoma rdzenia kręgowego1

Zaobserwowano, że ependymoma korelują z określonymi produktami onkogennymi i podgrupami molekularnymi, które mogą dokładniej korelować z wynikami klinicznymi w porównaniu z samą klasyfikacją histologiczną12. Dodatkowo, zwiększona ekspresja hTERT (telomerazy odwrotnej transkryptazy) promuje rozwój ependymoma poprzez zmniejszenie uszkodzeń DNA, zwiększenie proliferacji komórek i zmniejszenie apoptozy komórek1.

Deregulacja ścieżek sygnałowych

Tumorogeneza ependymoma obejmuje również deregulację różnych ścieżek sygnałowych, takich jak szlaki sygnalizacyjne Notch i EPHB-Ephrin. Deregulacja tych ścieżek jest charakterystyczna dla ependymoma nadnamiotowych1. Niedawne badanie wykazało, że onkogen receptor EPH B2 (EPHB2) może indukować ependymoma poprzez przekształcenie komórki gleju promienistego w przodomózgowiu w nowotworową komórkę macierzystą (CSC)1.

Różnice molekularne między podtypami

Ependymoma to heterogenna klasa guzów OUN, obejmująca nowotwory, które znacznie różnią się swoimi cechami1. Charakterystyka molekularna ependymoma dostarczyła dowodów, że klasyfikacja może obejmować guzy o bardzo odmiennych profilach biologicznych1. Mimo że histologicznie (gdy patolog obserwuje próbkę guza pod mikroskopem) ependymoma nadnamiotowe, podnamiotowe i rdzeniowe są do siebie podobne, wszystkie wykazują wyraźnie różne cechy/wady genetyczne1. W związku z tym ependymoma nadnamiotowe, podnamiotowe i rdzeniowe mogą mieć różne zachowanie biologiczne1.

Na podstawie profilowania transkrypcyjnego powszechnie akceptuje się, że mimo podobieństw histologicznych, ependymoma powstające w różnych regionach mózgu mają odrębne profile genowe i charakterystyczne linie komórkowe1. Ependymoma nadnamiotowe, które w dużej mierze pochodzą z linii gleju promienistego, wykazują, na podstawie profilowania mRNA, analizy cytogenetycznej i analizy epigenetycznej, że są molekularnie odmienne od ependymoma podnamiotowych1.

Lokalizacja Cechy molekularne Pochodzenie komórkowe Rokowanie
Ependymoma nadnamiotowe Często z fuzją ZFTA::RELA Komórki gleju promienistego ZFTA fuzja-pozytywne mają gorsze rokowanie
Ependymoma podnamiotowe Odrębny profil molekularny Komórki podobne do komórek macierzystych Zróżnicowane, zależne od podtypu molekularnego
Ependymoma rdzenia kręgowego Często z inaktywacją genu NF2 Dojrzałe komórki ependymalne Zazwyczaj wolno rosnące z dobrym rokowaniem

Predyspozycje genetyczne i zespoły dziedziczne

Większość przypadków ependymoma występuje sporadycznie, bez wyraźnej lub znanej przyczyny1. Jednakże istnieją pewne rzadkie schorzenia genetyczne, które zwiększają ryzyko rozwoju tego typu guza:

W niedawnym badaniu populacyjnym stwierdzono, że mniej niż 4% przypadków dziecięcego ependymoma jest wyjaśnionych przez predyspozycję genetyczną, praktycznie ograniczoną do patogennych wariantów w genach NF2 i NF11. Dodatkowo jako nowy potencjalny gen predyspozycji do ependymoma wskazano gen LZTR11.

Inne czynniki ryzyka

Oprócz uwarunkowań genetycznych, inne potencjalne czynniki ryzyka rozwoju ependymoma mogą obejmować:

  • Wiek – Ependymoma może wystąpić w każdym wieku, ale najczęściej występuje u dzieci, szczególnie poniżej 5 roku życia12
  • Ekspozycja na promieniowanie jonizujące – Wcześniejsza ekspozycja na wysokie dawki promieniowania jonizującego, zwykle stosowanego w leczeniu nowotworów, została zidentyfikowana jako potencjalny czynnik ryzyka12
  • Potencjalne czynniki środowiskowe – Chociaż nie ustalono bezpośrednich przyczyn środowiskowych, trwające badania mają na celu ustalenie, czy pewne ekspozycje środowiskowe mogą przyczyniać się do ryzyka ependymoma1

Niektóre badania sugerują możliwe czynniki, takie jak zakażenie wirusowe, brak stosowania multiwitamin, narażenie na pestycydy, promieniowanie częstotliwości radiowej, narażenie na rozpuszczalniki organiczne, ale istnieje niewiele badań potwierdzających jakikolwiek konkretny czynnik przyczynowy, głównie ze względu na rzadkość tego schorzenia1.

Brak potwierdzonych przyczyn i metod profilaktyki

Pomimo postępów w badaniach, dla większości przypadków ependymoma nie zidentyfikowano jednoznacznych przyczyn1. Nie ma również znanych sposobów zapobiegania rozwojowi tych guzów12. W przeciwieństwie do nowotworów związanych z wyborami stylu życia, czynnikami ryzyka lub ekspozycją środowiskową, dla ependymoma nie ustalono środków zapobiegawczych1.

Badacze kontynuują poszukiwania, aby lepiej zrozumieć czynniki ryzyka związane z tym schorzeniem, co może prowadzić do potencjalnych strategii zapobiegawczych w przyszłości12. Ważne jest, aby zrozumieć, że ependymoma pozostaje stosunkowo rzadkim guzem, a większość przypadków występuje sporadycznie bez wyraźnie identyfikowalnej przyczyny1.

Wpływ nieobliczalnych mutacji genetycznych

W wielu przypadkach nie wiadomo, dlaczego dochodzi do rozwoju ependymoma1. Większość osób nie ma rodzinnej historii guzów mózgu lub rdzenia kręgowego, a nie ma wyraźnego związku między stylem życia a czynnikami środowiskowymi, takimi jak narażenie na toksyny, chemikalia lub promieniowanie1.

Mutacje genetyczne występujące w komórkach ependymoma najczęściej pojawiają się spontanicznie w ciągu życia, a nie są dziedziczone od rodziców12. Przypuszcza się, że podczas wczesnego rozwoju może dojść do nieprawidłowości w sposobie podziału i wzrostu komórek ependymalnych w mózgu i rdzeniu kręgowym, co prowadzi do powstania guza w późniejszym życiu1.

Ważne jest podkreślenie, że nie ma niczego, co pacjent lub jego dziecko zrobili lub mogli uniknąć zrobienia, co zatrzymałoby rozwój ependymoma1. Mutacje te pojawiają się spontanicznie, co oznacza, że nie ma znanego sposobu przewidzenia lub zapobieżenia im1.

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  1. 12.04.2026
  2. www.leksykon.com.pl

Materiały źródłowe

  • #1 Ependymoma: Diagnosis and Treatment – NCI
    https://www.cancer.gov/rare-brain-spine-tumor/tumors/ependymoma
    Ependymomas are primary central nervous system (CNS) tumors. […] The cause of ependymomas is not known. However, they can occur in people with certain genetic diseases, such as Neurofibromatosis type 2. […] Ependymomas develop from ependymal cells called radial glial cells.
  • #1 Ependymoma Causes | Expert Surgeon | Aaron Cohen-Gadol, MD | Aaron Cohen-Gadol, MD
    https://www.aaroncohen-gadol.com/en/patients/ependymoma/types/causes
    An ependymoma is a type of tumor arising from ependymal cells that line the ventricles of the brain and central canal of the spinal cord. Ependymomas are relatively rare, accounting for only about 2% to 3% of all brain and spinal cord tumors in adults and up to 10% in children. A diagnosis of ependymoma can be unexpected and may prompt questions about the causes and risk factors for the development of this condition. […] The exact cause of ependymomas in the brain or spine is not yet fully understood. Ependymomas arise from specialized ependymal cells that line the ventricles and central canal of the spinal cord. Like in the case of tumors generally, mutations in the DNA of ependymal cells eventually lead to abnormal and unregulated growth. However, why such mutations occur in the first place is unclear.
  • #1 Pathology Outlines – Ependymoma overview
    https://www.pathologyoutlines.com/topic/cnstumorependymoma.html
    Unknown […] Ependymal tumors comprise 1.9% of all primary CNS tumors and 6.9% of primary glial neoplasms, with incidence rates of ~0.4/100,000 in the U.S. (Neuro Oncol 2015;17:iv1) […] Single cell RNA sequencing across all major molecular ependymoma groups revealed hierarchical cellular populations, including undifferentiated neural stem cells, radial glia cells and more differentiated cells towards ependymal, astrocytic and neuronal lineages (Cancer Cell 2020;38:44) […] Aberrant radial glia-like cells are potential cells of origin for supratentorial ependymoma, with ZFTA::RELA fusions and neural stem cell-like cells the origin of posterior fossa ependymoma (Cancer Cell 2020;38:44) […] Spinal ependymoma likely arises from mature adult ependymal cells due to their highly similar transcriptomic profiles through single cell RNA sequencing (Acta Neuropathol 2024;147:22)
  • #1 Ependymoma – Symptoms and causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/ependymoma/cdc-20350144
    Ependymoma is a growth of cells that forms in the brain or spinal cord. […] It’s not clear what causes ependymoma. This tumor starts as a growth of cells in the brain or spinal cord. […] Ependymoma happens when cells in the brain or spinal cord develop changes in their DNA. A cell’s DNA holds the instructions that tell the cell what to do. In healthy cells, the DNA gives instructions to grow and multiply at a set rate. The instructions tell the cells to die at a set time. In tumor cells, the DNA changes give different instructions. The changes tell the tumor cells to grow and multiply quickly. Tumor cells can keep living when healthy cells would die. This causes too many cells. […] Factors that increase the risk of ependymoma include: Young age. Ependymoma can happen at any age. This cancer happens most often in children. […] Some ependymomas are linked to genetic conditions passed down in families, such as with neurofibromatosis type 2 and Li-Fraumeni syndrome.
  • #1 Ependymoma – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK538244/
    Ependymomas are glial cell tumors that commonly arise in the lining cells of the ventricular system, and less commonly outside the central nervous system (CNS), or within the brain parenchyma. […] Several genetic abnormalities have been found to correlate with ependymoma and comprise large genomic regions. […] Some of these studies have demonstrated that ependymomas correlate with distinct oncogenic products and molecular subgroups which may correlate more accurately with clinical outcomes compared with histologic classification alone.
  • #1 An Insight into Pathophysiological Features and Therapeutic Advances on Ependymoma
    https://www.mdpi.com/2072-6694/13/13/3221
    Tumorigenesis also involves the deregulation of different pathways, such as the Notch and EPHB-Ephrin signaling pathways. The deregulation of these pathways indicates supratentorial ependymomas. […] Chromosomal abnormalities play a remarkable role in ependymomas. Translocation, partial loss, or monosomy 22 is frequently observed in 26–71% of cases of ependymomas. […] The gain of chromosomes 1q, a momentous tumor aggressiveness prognosticator, is often detected in pediatric intracranial ependymomas. […] The elevated expression of hTERT promotes ependymoma development by decreasing DNA damage, increasing cell proliferation, and lessening cell apoptosis.
  • #1 Ependymoma – DoveMed
    https://www.dovemed.com/diseases-conditions/ependymoma
    The cause of formation of Ependymoma is not well-established. It is reported that a combination of several factors may play a role in their formation, including genetic, environmental, and lifestyle-related; several chromosomal and genetic alterations have been identified. The risk factors may include the presence of certain genetic disorders, exposure to ionized radiation, viral infections, and even head trauma […] The exact cause of development of Ependymoma is not well-understood. Research scientists believe that the cause may involve a combination of several factors including genetic, environmental, and occupational factors. […] Based on molecular studies, it has been observed that the tumors show certain genetic/chromosomal defects such as: Monosomy 22 is seen in 30-70% of the tumors; monosomy 22 means that a cell has only one chromosome 22 rather than two, which is normally the case. Gains of material on chromosomes 1 and 9; these chromosomes have additional genetic material. And/or losses of material on chromosomes 10, 16, 21, and 22; these chromosomes have lost genetic material. Modifications in the Protein 4.1 family members is typically noted; the modifications affect both the DNA and protein. In 29-38% of the Spinal Ependymomas, inactivation of the NF2 gene affecting the protein it encodes for, is noted.
  • #1 An Insight into Pathophysiological Features and Therapeutic Advances on Ependymoma
    https://www.mdpi.com/2072-6694/13/13/3221
    Ependymomas are thought to be caused by oncogenetic events that turn normal ependymal cells into tumor phenotypes. The precise nature and order of these genetic events are uncertain. […] Radial glial cell (RGC) mutation is thought to be the original source of ependymomas. Chromosomal abnormalities also play a significant role in ependymoma development. […] Tumorigenesis is a complex multistep process that transforms a normal cell into malignant cells or cancer stem cells (CSCs). The process comprises the following three stages: initiation, promotion, and progression. This multistep process involves activation of the oncogene, inactivation of a tumor suppressor gene, as well as epigenetic phenomena that alter gene expression. […] A recent study demonstrated that the oncogene EPH receptor B2 (EPHB2) could induce an ependymoma by converting an RGC in the forebrain into a CSC.
  • #1 Ependymoma: Practice Essentials, Background, Pathophysiology
    https://emedicine.medscape.com/article/277621-overview
    Ependymomas have no known environmental cause. A number of genetic mutations have been associated with ependymomas, but a causal relationship between these mutations and tumor progression has not yet been determined. A population based study in Denmark observed that germline mutations in NF1 and NF2 were associated with the development of childhood ependymoma, but fewer than 4% of observed ependymomas were associated with germline mutations. […] Ependymomas are a heterogenous class of CNS tumor and encompass neoplasms that vary widely in their features. Molecular characterization of ependymomas has provided evidence that the classification may encompass tumors with very distinct biological profiles. Incorporating this insight, the 2021 WHO Guidelines subdivided the neoplasm into the types listed below.
  • #1 Ependymoma – DoveMed
    https://www.dovemed.com/diseases-conditions/ependymoma
    Any loss or gain of chromosomal material (or genetic mutations) affects the normal function of the cells. This often results in the formation of tumors or other abnormal signs and symptoms. […] It is important to note that histologically (i.e., when a pathologist observes the tumor specimen under a microscope), supratentorial, infratentorial, and spinal Ependymomas are similar to each other, but they all show distinctively different genetic features/defects. Hence, supratentorial Ependymomas, infratentorial Ependymomas, and spinal Ependymomas may have varying biologic behavior.
  • #1 Ependymoma | MedLink Neurology
    https://www.medlink.com/articles/ependymoma
    Ependymomas are believed to arise from the ependymal surface of the brain or the spinal cord. Factors associated with the development of such tumors are unknown. Believed to arise from radial glial cells, supratentorial and infratentorial ependymomas have different genomic, gene expression, and immunohistochemical signatures. […] The specific molecular genetic changes of pediatric ependymomas are increasingly delineated, although comparative genomic hybridization studies and other molecular genetics techniques such as all karyotyping with microsatellite marker have most often implicated the 6q, 17q, and 22q regions; findings have also been found on chromosomes 13, 16, 19, and 20. Radial glia have been identified as the candidate stem cells of ependymoma. […] Based on transcriptional profiling studies, it is now widely accepted that despite histologic similarities, ependymomas rising from different regions of the brain have distinct gene profiles and signature cellular lineages. Supratentorial ependymomas, which are in great part from radial glial lineage, have been demonstrated by mRNA profiling, cytogenetic analysis, and epigenetic analysis to be molecularly different from infratentorial ependymomas.
  • #1 Ependymoma – Symptoms, Diagnosis, and TreatmentSecond Opinion IconGroup 9Second Opinion IconGroup 9Group 49
    https://www.barrowneuro.org/condition/ependymoma/
    Ependymomas are sometimes associated with specific genetic mutations, but these changes in cell DNA typically happen during a person’s life rather than being inherited from parents. […] The exact cause of ependymoma is not fully understood. Most ependymomas are sporadic, meaning they happen without a clear or known cause. […] In some cases of ependymoma, researchers have identified specific chromosomal abnormalities or alterations that may contribute to tumor formation. […] A rare genetic disorder that increases the risk of developing tumors in the central nervous system, NF2 is not a common cause of ependymomas. […] During early development, it’s thought that something may go wrong in how ependymal cells in the brain and spinal cord divide and grow, leading to the formation of a tumor later in life.
  • #1 Ependymoma > Fact Sheets > Yale Medicine
    https://www.yalemedicine.org/conditions/ependymoma
    Ependymoma is a tumor that arises within the brain or spinal cord. Its more likely to appear in children than adults. […] Doctors dont yet know what causes ependymoma. Most cases of ependymoma occur sporadically, with no confirmed cause. […] However, certain inherited conditions have been linked to this form of cancer, most notably neurofibromatosis type 2. […] Because doctors are unsure what causes ependymoma, they often do not know what circumstances increase the risk for this type of cancer. […] However, some inherited conditions may increase the risk of ependymoma, including: Neurofibromatosis type 2, Turcot syndrome B, MEN1 syndrome.
  • #1 Redefining germline predisposition in children with molecularly characterized ependymoma: a population-based 20-year cohort | Acta Neuropathologica Communications | Full Text
    https://actaneurocomms.biomedcentral.com/articles/10.1186/s40478-022-01429-1
    In summary, less than 4% of childhood ependymoma is explained by genetic predisposition, virtually restricted to pathogenic variants in NF2 and NF1. […] Based on the described meta-analysis, the current best estimate of germline predisposition in childhood ependymoma suggests that 3.4% (7/207) carry a causative pathogenic germline variant, mainly located in NF2 and NF1. […] We therefore advocate diagnostic reconsideration in children with non-molecularly classified ependymoma with cancer predisposition syndromes other than neurofibromatosis type-2. In addition, we present LZTR1 as a novel putative ependymoma predisposition gene.
  • #1 Ependymoma: Types, Symptoms, Causes, & Treatment
    https://mnamd.com/conditions/neurological-spinal-oncology/ependymoma/
    Ependymoma is a type of brain or spinal cord tumor that arises from ependymal cells lining the ventricles of the brain or the central canal of the spinal cord. […] While the precise causes of ependymoma remain largely unknown, ongoing research and medical advancements have shed some light on potential contributing factors. Ependymoma is a type of brain or spinal cord tumor that originates from ependymal cells lining the ventricles of the brain or the central canal of the spinal cord. […] Some cases of ependymoma have been linked to genetic conditions, such as neurofibromatosis type 2 (NF2) and Li-Fraumeni syndrome. Individuals with these genetic predispositions may have an increased likelihood of developing ependymoma. […] Exposure to high doses of ionizing radiation, typically used in cancer treatments, has been identified as a potential risk factor for the development of ependymoma.
  • #1 Ependymoma: Types, Symptoms, Causes, & Treatment
    https://mnamd.com/conditions/neurological-spinal-oncology/ependymoma/
    Specific genetic mutations, although rare, have been associated with the development of ependymoma. Researchers continue to explore the significance of these mutations in the formation of this tumor. […] While no direct environmental causes have been definitively established, ongoing studies aim to determine if certain environmental exposures may contribute to ependymoma risk. […] It is essential to understand that ependymoma remains a relatively rare tumor, and most cases occur sporadically without a clearly identifiable cause. Additionally, not all individuals with the above-mentioned risk factors will develop ependymoma. Further research is required to unravel the intricacies of the tumors origins fully.
  • #1 Ependymoma Research Foundation | Information About Ependymoma
    https://ependymomaresearchfoundation.org/information.html
    Ependymoma is a tumor of the brain and spinal cord. […] The cause of ependymoma is entirely unclear. […] Possible causes of ependymoma range from viral infection, exposure to ionizing radiation, lack of multivitamin use, exposure to pesticides, radio frequency radiation, exposure to organic solvents and random chance. […] There is little research to support any particular causative factor largely due to the rarity of the condition. […] Recent research has indicated that the classification of ependymoma has multiple subtypes depending on location of the tumor and the presence of a variety of many histological and genetic markers. […] More recently, some differentiation of the tumor types has been made based on the variable epigenetic landscape of the tumor whereby the differential expression of genes and not specific genetic mutations determine the behavior of the tumor. […] One trend that appears to pervade the literature regarding ependymoma is that the extent of resection after surgery is perhaps the strongest factor driving how a patient fares long term.
  • #1 Ependymoma – Symptoms, Diagnosis, and TreatmentSecond Opinion IconGroup 9Second Opinion IconGroup 9Group 49
    https://www.barrowneuro.org/condition/ependymoma/
    In many cases, it’s unknown why an ependymoma develops. Most people don’t have a family history of brain tumors or spine tumors, and there is no clear link between lifestyle and environmental elements, such as exposure to toxins, chemicals, or radiation. […] Unlike cancers linked to lifestyle choices, risk factors, or environmental exposures, ependymomas have no established preventive measures. These mutations happen spontaneously, meaning there’s no known way to predict or prevent them.
  • #1
    https://www.aurorahealthcare.org/services/neuroscience/brain-skull-base-care/brain-tumor/ependymoma
    Ependymoma tumors are rare, and we dont know what causes them. […] We dont know what causes ependymomas and haven’t found any way to prevent them. […] The only risk factor identified for ependymoma tumors is an inherited cancer syndrome called neurofibromatosis type 2 (NF2). However, not everyone who has the syndrome will develop an ependymoma.
  • #1
    https://www.parkwayeast.com.sg/conditions-diseases/ependymoma/symptoms-causes
    The exact causes of ependymoma are not well understood. Genetic and environmental factors are considered to play a role, but no definitive causative agents have been identified. Research is ongoing to determine the underlying mechanisms that contribute to the development of these tumours. […] Currently, there are no known preventative measures for ependymoma due to its unclear etiology. Ongoing research aims to better understand the risk factors associated with this condition, which may lead to potential preventative strategies in the future.
  • #1 Ependymoma | The Brain Tumour Charity
    https://www.thebraintumourcharity.org/brain-tumour-diagnosis-treatment/types-brain-tumour-children/ependymoma/
    Ependymoma causes: There is nothing you or your child have done, or couldve avoiding doing, that would have stopped an ependymoma from growing. […] As with any brain tumour, we arent sure why they begin to develop, although research is helping us to understand some of the risk factors involved.
  • #2 Ependymoma: Symptoms, Treatment, Prognosis & Types
    https://my.clevelandclinic.org/health/diseases/23147-ependymoma
    Ependymomas are primary tumors. That means they form directly in your brain or spinal cord (they dont spread there from somewhere else in your body). […] Experts arent sure what causes ependymomas. They may happen by mistake when ependymal cells in your brain divide and replicate. Some genetic variations may cause them. […] Some studies have found that people who carry the genetic variations that cause neurofibromatosis type 2 may be more likely to develop ependymomas. But experts cant say for sure that theyre linked. Theyre still studying this possible connection.
  • #2 Ependymoma – Symptoms and causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/ependymoma/cdc-20350144
    Ependymoma is a growth of cells that forms in the brain or spinal cord. […] It’s not clear what causes ependymoma. This tumor starts as a growth of cells in the brain or spinal cord. […] Ependymoma happens when cells in the brain or spinal cord develop changes in their DNA. A cell’s DNA holds the instructions that tell the cell what to do. In healthy cells, the DNA gives instructions to grow and multiply at a set rate. The instructions tell the cells to die at a set time. In tumor cells, the DNA changes give different instructions. The changes tell the tumor cells to grow and multiply quickly. Tumor cells can keep living when healthy cells would die. This causes too many cells. […] Factors that increase the risk of ependymoma include: Young age. Ependymoma can happen at any age. This cancer happens most often in children. […] Some ependymomas are linked to genetic conditions passed down in families, such as with neurofibromatosis type 2 and Li-Fraumeni syndrome.
  • #2 Pathology Outlines – Ependymoma overview
    https://www.pathologyoutlines.com/topic/cnstumorependymoma.html
    Unknown […] Ependymal tumors comprise 1.9% of all primary CNS tumors and 6.9% of primary glial neoplasms, with incidence rates of ~0.4/100,000 in the U.S. (Neuro Oncol 2015;17:iv1) […] Single cell RNA sequencing across all major molecular ependymoma groups revealed hierarchical cellular populations, including undifferentiated neural stem cells, radial glia cells and more differentiated cells towards ependymal, astrocytic and neuronal lineages (Cancer Cell 2020;38:44) […] Aberrant radial glia-like cells are potential cells of origin for supratentorial ependymoma, with ZFTA::RELA fusions and neural stem cell-like cells the origin of posterior fossa ependymoma (Cancer Cell 2020;38:44) […] Spinal ependymoma likely arises from mature adult ependymal cells due to their highly similar transcriptomic profiles through single cell RNA sequencing (Acta Neuropathol 2024;147:22)
  • #2 Ependymoma // Middlesex Health
    https://middlesexhealth.org/learning-center/diseases-and-conditions/ependymoma
    Ependymoma happens when cells in the brain or spinal cord develop changes in their DNA. […] It’s not clear what causes ependymoma. This tumor starts as a growth of cells in the brain or spinal cord.
  • #2 Ependymoma: Causes, Types, Symptoms, Diagnosis & Treatment
    https://www.ganeshdiagnostic.com/blog/ependymoma-causes-types-symptoms-diagnosis-and-treatment
    Even while ependymomas that develop in various parts of the CNS are histologically similar, their clinical behaviour frequently varies. […] Large genomic areas are affected by number of genetic disorders that have been identified to be associated with ependymoma According to several of these investigations, ependymomas are associated with specific carcinogenic substances and molecular subgroups that may be more reliably associated with clinical outcomes than just histologic classification.
  • #2 Ependymoma > Fact Sheets > Yale Medicine
    https://www.yalemedicine.org/conditions/ependymoma
    Ependymoma is a tumor that arises within the brain or spinal cord. Its more likely to appear in children than adults. […] Doctors dont yet know what causes ependymoma. Most cases of ependymoma occur sporadically, with no confirmed cause. […] However, certain inherited conditions have been linked to this form of cancer, most notably neurofibromatosis type 2. […] Because doctors are unsure what causes ependymoma, they often do not know what circumstances increase the risk for this type of cancer. […] However, some inherited conditions may increase the risk of ependymoma, including: Neurofibromatosis type 2, Turcot syndrome B, MEN1 syndrome.
  • #2 Ependymoma | Beacon Health System
    https://www.beaconhealthsystem.org/library/diseases-and-conditions/ependymoma?content_id=CON-20117720
    It’s not clear what causes ependymoma. This tumor starts as a growth of cells in the brain or spinal cord. […] Ependymoma happens when cells in the brain or spinal cord develop changes in their DNA. A cell’s DNA holds the instructions that tell the cell what to do. In healthy cells, the DNA gives instructions to grow and multiply at a set rate. The instructions tell the cells to die at a set time. In tumor cells, the DNA changes give different instructions. The changes tell the tumor cells to grow and multiply quickly. Tumor cells can keep living when healthy cells would die. This causes too many cells. […] Factors that increase the risk of ependymoma include: Young age. Ependymoma can happen at any age. This cancer happens most often in children. […] Inherited syndromes. Some ependymomas are linked to genetic conditions passed down in families, such as with neurofibromatosis type 2 and Li-Fraumeni syndrome.
  • #2 Ependymoma in children | Cancer Research UK
    https://www.cancerresearchuk.org/about-cancer/childrens-cancer/brain-tumours/types/ependymoma
    Most people worry about what caused their child to develop cancer. We dont know what causes most childhood cancers, or how to prevent them. This includes ependymoma. […] We know that theres a small increased risk of ependymoma with some inherited cancer syndromes. […] Rarely ependymoma is linked to familial adenomatous polyposis (FAP) – sometimes known as Turcot syndrome and spinal tumours in neurofibromatosis type 2 (NF2). […] But remember, not every child with one of these syndromes develops a brain tumour. […] We don’t know what causes or how to prevent most childhood cancers. There are some factors that can increase the risk of cancer in children.
  • #2 Ependymoma Causes | Expert Surgeon | Aaron Cohen-Gadol, MD | Aaron Cohen-Gadol, MD
    https://www.aaroncohen-gadol.com/en/patients/ependymoma/types/causes
    Certain inherited conditions such as neurofibromatosis type 2 (NF2) has been associated with an increased risk of developing spinal ependymomas. Other specific risk factors contributing to ependymoma formation have not been identified; however, exposure to large amounts of ionizing radiation can cause DNA damage and may increase your risk of tumor development in general. […] Ependymoma is not considered a hereditary or genetic condition. Most cases of ependymoma occur sporadically. However, there are some rare genetic syndromes associated with an increased risk of developing ependymoma, such as: Neurofibromatosis type 2 (NF2), Multiple endocrine neoplasia type 1 (MEN1), Turcot syndrome. Individuals with these syndromes have a higher risk of developing ependymoma, along with other types of tumors, compared with the general population. […] The exact cause of ependymomas is unknown. Inherited conditions such as NF2, MEN1, and Turcot syndrome are associated with the development of ependymomas, among other tumors.
  • #2 Ependymoma in Children and Teens – Together by St. Jude™
    https://together.stjude.org/en-us/conditions/cancers/ependymoma.html
    Ependymomas are most common in children under age 5. But these tumors may happen at any age. […] Certain changes in genes and chromosomes in the tumor cells are linked to ependymoma. These are not usually passed down from parents. In most cases, it is not known why these genetic changes occur. […] Some children may have a higher risk for ependymoma due to neurofibromatosis type 2 (NF2). This rare condition is passed through families. […] Many ependymomas form in the fourth ventricle in the posterior fossa region. Tumors in this location are most likely to affect the brain stem and cerebellum.
  • #2 Ependymoma | Neurological Surgery
    https://neurosurgery.weillcornell.org/condition/ependymoma
    Ependymoma tumors are rare and account for only two percent of central nervous system tumors in adults. […] The cause of most ependymoma tumors is unknown. It rarely occurs in members of the same family, although people with a genetic disorder called neurofibromatosis type II have a higher risk of developing an ependymoma. […] Researchers are making progress, but they often cant pinpoint what causes the genetic mutations that lead to spine or brain tumors. Some tumors may arise from genetic mutations linked to exposure to environmental toxins or from previous radiation treatments for other cancers. […] Although scientists do not yet fully understand the cause of ependymomas, brain and spine tumors are the subjects of intense research and investigation.
  • #2
    https://www.parkwayeast.com.sg/conditions-diseases/ependymoma/symptoms-causes
    The exact causes of ependymoma are not well understood. Genetic and environmental factors are considered to play a role, but no definitive causative agents have been identified. Research is ongoing to determine the underlying mechanisms that contribute to the development of these tumours. […] Currently, there are no known preventative measures for ependymoma due to its unclear etiology. Ongoing research aims to better understand the risk factors associated with this condition, which may lead to potential preventative strategies in the future.
  • #2
    https://www.mountelizabeth.com.sg/conditions-diseases/ependymoma
    The exact causes of ependymoma are not well understood. Genetic and environmental factors are considered to play a role, but no definitive causative agents have been identified. […] Currently, there are no known preventative measures for ependymoma due to its unclear etiology. Ongoing research aims to better understand the risk factors associated with this condition, which may lead to potential preventative strategies in the future.
  • #3 What is Ependymoma: Symptoms, Causes, & Treatment
    https://www.webmd.com/cancer/brain-cancer/what-is-ependymoma
    Ependymomas are cancerous tumors that grow in your brain or any part of the spine, including your neck and upper and lower back. […] Doctors aren’t sure what causes ependymomas. But your chances of getting the disease go up if you have a genetic condition called neurofibromatosis type 2.