Materiały źródłowe

• #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. […] Ependymoma is a histological diagnosis, and it most commonly presents in three major anatomical sites: supratentorial, spinal cord, and infratentorial. […] Ependymoma is commonly suspected in adult patients suffering prolonged clinical courses, who present a non-enhancing and well-demarcated intraventricular lesion on brain imaging, isodense in computed tomography, and isointense on T1 images on magnetic resonance imaging (MRI). […] Traditionally, ependymomas are classified using the World Health Organization (WHO) system to classify tumors of the nervous system. […] In ependymoma, however, the molecular and genomic profiles may provide more accurate information than only using histological grade.

• #1 How is Ependymoma Diagnosed | CERN Foundation

  https://www.cern-foundation.org/education/diagnosis/how-is-ependymoma-diagnosed

  Usually, people with ependymoma are diagnosed after showing symptoms. […] A common diagnostic test that identifies potential neurologic problems is a magnetic resonance image or MRI. […] An MRI is typically the preferred test for people who may have a brain or spinal cord tumor. […] If the MRI shows a possible primary brain or spinal cord tumor, patients normally do not need other imaging tests of the body. […] MRI of the brain or spine is not only used as a baseline test, but may also be used to evaluate the whole central nervous system. […] Sometimes a lumbar puncture (spinal tap) is necessary if there is concern that the tumor has spread into the cerebrospinal fluid. […] Direct testing of the cerebrospinal fluid is done to look for the presence of tumor cells.

• #1

  https://www.aurorahealthcare.org/services/neuroscience/brain-skull-base-care/brain-tumor/ependymoma

  Ependymoma diagnosis is challenging because they are hard to diagnose. […] You’ll probably be referred to a specialist such as a neurologist, neurosurgeon or neuro-oncologist for diagnosis of any brain tumor. […] At your first visit, your doctor will ask about your medical history, symptoms and how symptoms started. […] Testing to determine a brain tumor diagnosis often involves different types of magnetic resonance imaging (MRI). […] To help find any cancerous cells, MRI will probably be used with contrast dye because cancer cells absorb more contrast than normal cells do. […] Your doctor may also order a lumbar puncture to gather cerebrospinal fluid to see if it contains cancer cells.

• #1 Ependymoma – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/ependymoma/diagnosis-treatment/drc-20580745

  Tests and procedures used to diagnose ependymoma include: […] During a neurological exam, a healthcare professional checks vision, hearing, balance, coordination, strength and reflexes. Problems in one or more of these areas may provide clues about the part of the brain or spinal cord that could be affected by a tumor. […] Imaging tests make pictures of the body. They can show the location and size of an ependymoma. MRI is often used to diagnose brain tumors. It may be used along with specialized MRI imaging, such as magnetic resonance angiography. Because ependymoma can happen in the brain and the spinal cord, imaging tests may be used to create pictures of both areas. […] Called a lumbar puncture or spinal tap, this procedure involves inserting a needle between two bones in the lower spine. The needle draws out fluid from around the spinal cord. The fluid is tested to look for tumor cells.

• #1 EANO guidelines for the diagnosis and treatment of ependymal tumors

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5909649/

  Ependymal tumors are rare CNS tumors and may occur at any age, but their proportion among primary brain tumors is highest in children and young adults. […] The diagnosis and disease staging is performed by craniospinal MRI. Tumor classification is achieved by histological and molecular diagnostic assessment of tissue specimens according to the World Health Organization (WHO) classification 2016. […] A gross total resection is the mainstay of treatment in spinal ependymomas, and radiotherapy is reserved for incompletely resected tumors. […] MRI with contrast enhancement is the modality of choice for diagnosing ependymal tumors. […] Advanced imaging modalities may assist in diagnosis or management in some clinical scenarios; however, the available data from the literature are too scarce and do not allow for definitive recommendations for daily clinical practice.

• #1 Ependymoma: Diagnosis and Treatment – NCI

  https://www.cancer.gov/rare-brain-spine-tumor/tumors/ependymoma

  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. […] Ependymomas usually appear as one or more well-defined masses that often brighten with contrast on a magnetic resonance imaging (MRI) scan. […] The likely outcome of the disease or chance of recovery is called prognosis. Prognosis is based on the tumor grade, location, tumor type, extent of tumor spread, genetic findings, patients age, and tumor remaining after surgery (if surgery is possible).

• #1 Ependymoma Diagnosis | Expert Surgeon | Aaron Cohen-Gadol, MD | Aaron Cohen-Gadol, MD

  https://www.aaroncohen-gadol.com/en/patients/ependymoma/types/diagnosing

  Ependymomas are rare tumors that can develop in the brain or spine. The diagnosis can be made with a combination of imaging, analysis of the tumor specimen under a microscope, and molecular testing. […] Ependymomas are diagnosed by a combination of imaging tests such as magnetic resonance imaging (MRI) or computed tomography (CT) scans, and tissue biopsy. […] Imaging: Spinal ependymoma MRI or CT scans can help to determine the location and size of the tumor as well as its relationship to surrounding structures. Ependymomas appear as well-defined, contrast-enhancing masses on MRI and may show evidence of cystic change or hemorrhage. […] Biopsy: Tissue analysis can confirm the diagnosis of ependymoma and classify the type of ependymoma based on the appearance of cells under a microscope and the results of other molecular tests. This can help to predict prognosis and outcomes.

• #1 Pathology Outlines – Ependymoma overview

  https://www.pathologyoutlines.com/topic/cnstumorependymoma.html

  Diagnosis is made by integrating histologic features, tumor location and molecular findings (Neuro Oncol 2021;23:1231) […] Commonly discrete, well circumscribed mass with avid uniform contrast enhancement […] Hyperdense on computed tomography and T2 hyperintense on magnetic resonance imaging […] 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) […] Diagnosis is made by integrating histologic features, tumor location and molecular findings (Neuro Oncol 2021;23:1231) […] Complete resection is a predictor of good prognosis in PFA, PFB, PF-SE and SP-MP but not in ST-ZFTA.

• #1 Ependymoma Workup: Approach Considerations, Laboratory Studies, Imaging Studies

  https://emedicine.medscape.com/article/277621-workup

  Although computed tomography (CT) is often the first imaging study performed in patients with possible central nervous system lesions, contrast-enhanced magnetic resonance imaging (MRI) of the brain or spine is the gold standard imaging study for ependymoma. CT lacks the resolution of MRI, especially in the posterior fossa, but can be used in patients who cannot have an MRI. […] Gross total resection, if feasible, is indicated to confirm the histologic diagnosis and to initiate treatment. Patients in whom gross total resection is not feasible should undergo biopsy (stereotactic or open) or subtotal resection. […] The most recent WHO 2021 Classification of CNS Tumors emphasizes the use of DNA methylation profiling to further determine the ependymal tumor subtype. By revealing epigenetic modifications in gene expression, methylation profiling can often serve as the first step in distinguishing molecular subtypes of ependymoma that arise in the same anatomical location.

• #1 Symptoms & Diagnosis of Ependymoma

  https://www.parashospitals.com/blogs/symptoms-diagnosis-of-ependymoma

  Basically people with ependymoma are diagnosed for the disease only once the symptoms surface. A common diagnostic test that identifies potential neurologic problems is a magnetic resonance image or MRI. […] An MRI is typically the preferred test for people who may have a brain or spinal cord tumor. It shows a better picture of the brain, spine and tumor than computed tomography (CT) scans, although a CT scan may be the first test that is done. […] For this reason, a number of tests are done at diagnosis to see if the cells have spread. Ependymomas are classified according to grade. […] Following tests may be used to diagnose ependymoma: […] A CT scan can be used to measure the tumors size. […] MRI can be used to measure the tumors size. […] A biopsy is the removal of a small amount of tissue for examination under a microscope. Other tests can suggest that a tumor is present, but only a biopsy can make a definite diagnosis. […] A lumbar puncture is a procedure in which a doctor uses a needle to take a sample of cerebral spinal fluid (CSF) to look for tumor cells.

• #1 Ependymoma Workup: Approach Considerations, Laboratory Studies, Imaging Studies

  https://emedicine.medscape.com/article/277621-workup

  Lumbar puncture (LP) may be performed to aid in the differential diagnosis. However, LP is generally contraindicated in the setting of a posterior fossa tumor because of the risk of herniation. […] The presence of characteristic histologic features may have utility in supporting a diagnosis of ependymoma. […] No conventional staging criteria exist for intracranial or spinal ependymomas. […] Electroencephalography (EEG) performed on a patient with a supratentorial ependymoma may show generalized, diffuse slowing and/or epileptogenic spikes over the area of the tumor. However, no findings on EEG are specific for ependymoma.

• #1 Ependymoma – tumour of the brain and spinal cord | Macmillan Cancer Support

  https://www.macmillan.org.uk/cancer-information-and-support/brain-tumour/ependymoma

  Your doctors need to find out as much as possible about the type, position and size of the tumour so they can plan your treatment. […] You will usually have brain scans to find out the exact position and size of the tumour. You may have a brain CT scan first. You also usually have an MRI brain scan. You may have an MRI of both the brain and the spine. […] Having an MRI scan is important as it can give more detailed information. If you are not able to have an MRI scan, your doctor will discuss this with you. […] There are different types of MRI scans. You may need to have more than 1 to ensure that your doctors have all of the information they need to make a diagnosis and guide any treatment. […] You may also have a biopsy, which involves an operation to take a sample of the tumour to test. Brain tumour biopsies are usually done at the same time as surgery to remove the tumour.

• #1 Ependymoma – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/ependymoma/diagnosis-treatment/drc-20580745

  Based on the test results, your healthcare professional may suspect ependymoma and recommend surgery to remove the tumor. Once removed, the tumor cells are tested in a lab to confirm the diagnosis. Special tests can tell the healthcare team about the types of cells involved in the tumor. Your healthcare team may use this information to guide treatment decisions.

• #1 Ependymoma Diagnosis & Treatment – NYC | Columbia Neurosurgery in New York City

  https://www.neurosurgery.columbia.edu/patient-care/conditions/ependymoma

  Ependymomas are brain tumors that arise from ependymal cells. The most common surgical treatment for ependymoma is craniotomy and surgical removal, and the most common nonsurgical treatment is stereotactic radiosurgery. […] Ependymomas are assigned a grade that reflects the appearance of the tumor cells under a microscope. Grade I designates a typical tumor cell appearance, Grade II a slightly atypical tumor cell appearance, and Grade III a significantly atypical tumor cell appearance. […] The key to diagnosing ependymomas is imaging. Computed tomography (CT) and magnetic resonance imaging (MRI) scans can show the tumor and surrounding brain tissue. MRI scan is the imaging study of choice because it yields superior tumor detail and may need to be conducted on the head and spine to detect metastases. […] To confirm a diagnosis, biopsy is required. The biopsy sample is almost always taken during surgery to remove the tumor.

• #1 EANO guidelines for the diagnosis and treatment of ependymal tumors

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5909649/

  Ependymal tumors are classified according to the WHO classification of CNS tumors 2016. […] Histological assessment is primarily based on hematoxylin/eosin-stained sections and some ancillary techniques, including silver impregnation for reticulin fibers, Alcian blue for demonstration of mucoid changes, and periodic acid-Schiff staining for glycogen. […] The 2016 WHO classification of CNS tumors includes 5 distinct entities of ependymal tumors. […] In the majority of studies, extent of resection has emerged as one of the most significant predictors of outcome. […] In adults, there is agreement that postoperative radiotherapy should be included in the standard of care for patients with anaplastic ependymoma (WHO grade III) and for patients with ependymomas (WHO grade II) after an incomplete resection.

• #1

  https://journals.lww.com/ijpm/fulltext/2022/65001/overview_of_recent_advances_in_the_classification.10.aspx

  Ependymomas can arise along the entire neuraxis; however, they possess site-specific unique molecular alterations and a methylome pattern which is directly related with the prognostic outcomes. […] The 2021 WHO classification of tumors of the CNS, fifth edition (WHO CNS5), has introduced major changes including molecular profiles as the basis of diagnosis in CNS tumor classification. […] Ependymomas are now classified according to a combination of histopathology features, anatomic sites, and molecular markers, thus dividing them into different molecular groups across the supratentorial (ST), posterior fossa (PF), and spinal compartments. […] The molecular classification of ependymomas is based on novel diagnostic technologies such as DNA methylome profiling and DNA sequencing. […] On the basis of the results of large cohort methylome profiling-based studies, WHO CNS5 has classified ependymomas into site-specific molecular predictive groups which bear significant prognostic relevance.

• #1 Ependymoma | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/ependymoma?lang=us

  Ependymal tumors can occur anywhere within the neuraxis; however, the distribution, histology and molecular characteristics, including DNA methylation profiling, are fairly site-dependent. As such the 5th edition (2021) WHO classification divides ependymal tumors into five distinct entities; three based on location, further subdivided according to molecular characteristics, and two other specific entities.

• #1 Ependymoma – Brief information

  https://www.gpoh.de/kinderkrebsinfo/content/diseases/brain_tumours/pohpatinfoependy120071126/pohpatinfoependykurz120070626/index_eng.html

  The extent of histological and, especially, molecular genetic workup has been substantially increased over the past years. Todays option of using modern laboratory techniques makes it possible to identify molecular tissue characteristics that do not only help finalize the diagnosis, but can also provide information on what to expect regarding the course of the disease (such as growth behaviour). Hence, molecular diagnostics already play an important role in treatment planning and will most certainly become even more relevant in the future. […] Once the diagnosis of an ependymoma has been confirmed, additional tests are required to assess the extent of the disease within the central nervous system (CNS). Apart from MRI scans of the complete CNS (brain and spine) for macroscopic metastases, these tests also include microscopic checking of the cerebrospinal fluid (CSF) for tumour cells in the spinal cord (which are not visible by MRI scan). Cerebrospinal fluid is mostly obtained from the spine in the lower back (lumbar puncture), since the risk of the puncture needle damaging the spinal cord is lowest at the lower back level.

• #1 Ependymoma Treatment | St. Jude Care & Treatment

  https://www.stjude.org/care-treatment/treatment/childhood-cancer/brain-tumors/ependymoma.html

  Because there are different types of ependymomas, molecular testing must occur on your childs tumor to get a correct diagnosis. […] It is important for your childs tumor to have molecular testing completed. This will ensure that your doctor has the information to form a plan for treating your child.

• #1

  https://journals.lww.com/ijpm/fulltext/2022/65001/overview_of_recent_advances_in_the_classification.10.aspx

  Different molecular techniques such as real-time polymerase chain reaction (RTPCR), fluorescent-in-situ hybridization (FISH), DNA sequencing, RNA sequencing, and methylation arrays can be used to identify site-specific genetic alteration. […] To conclude, unlike other glial tumors, ependymomas show site-specific molecular signatures with distinct clinical, demographic, and radiological features which are directly related to the predictive outcomes, tumor behavior, and prognosis.

• #1 Optimising biomarkers for accurate ependymoma diagnosis, prognostication and stratification within International Clinical Trials: A BIOMECA study | medRxiv

  https://www.medrxiv.org/content/10.1101/2022.11.24.22282659v1.full-text

  It is critical to facilitate the identification, prognostication and stratification of ependymoma by linking these molecular tumour types to robustly validated biomarkers. […] An aim of the SIOP Ependymoma II clinical trial is to identify and validate prognostic biomarkers within the collaborative Biomarkers of Ependymoma in Children and Adolescents (BIOMECA) study. […] We were able to show that H3K27me3 IHC is both accurate and reproducible for the diagnosis of PFA ependymoma in a clinical trial setting. […] Our study suggests that TNC is not a useful marker for PF ependymoma, and that FISH should be abandoned as a technique for the assessment of copy number status in ependymoma. […] The integration of tumour-specific histopathology and molecular profiling is gaining pace, the updated 2021 WHO CNS5 classification of CNS tumours now lists ten molecularly defined types of ependymal tumours.

• #1 Molecular Stratification of Childhood Ependymomas as a Basis for Personalized Diagnostics and Treatment

  https://www.mdpi.com/2072-6694/13/19/4954

  Molecular Stratification of Childhood Ependymomas as a Basis for Personalized Diagnostics and Treatment […] Ependymomas are among the most enigmatic tumors of the central nervous system, posing enormous challenges for pathologists and clinicians. […] Their histopathological evaluation alone is not sufficient for reliable diagnostics, prognosis, and choice of treatment strategy. […] The importance of integrated diagnosis for ependymomas is underscored in the recommendations of Consortium to Inform Molecular and Practical Approaches to CNS Tumor Taxonomy. […] This minireview highlights recent advances in comprehensive molecular-genetic characterization of ependymomas. […] Strong emphasis is made on the use of molecular approaches for verification and specification of histological diagnoses, as well as identification of prognostic markers for ependymomas in children.

• #1 Molecular Stratification of Childhood Ependymomas as a Basis for Personalized Diagnostics and Treatment

  https://www.mdpi.com/2072-6694/13/19/4954

  Over recent years, the diagnostics of CNS malignancies has been significantly reconsidered. […] The accent has been shifted from pathomorphology to molecular profiling and the search for clinically informative markers that would justify the selection of a particular therapy. […] Molecular subgrouping of EPNs is superior to histopathological grading based on the WHO criteria. […] An advanced EPN classification has been recently proposed by the Consortium to Inform Molecular and Practical Approaches to CNS Tumor Taxonomy (cIMPACT-NOW) update 7, aimed at connecting localization-dependent molecular groups with tumor progression modes and outcomes. […] The presence of recurrent ZFTA–RELA fusions has been repeatedly implicated as an adverse prognostic factor. […] The ultra-high risks conferred by the co-occurrence of cytogenetic markers in PF-EPN-A patients should be taken into account for the treatment regimen optimization.

• #1 EANO guidelines for the diagnosis and treatment of ependymal tumors

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5909649/

  The benefit of postoperative radiotherapy has been shown in terms of local control and survival rates in children with intracranial ependymomas. […] Recommendations regarding treatment of intracranial ependymomas in adults are summarized in Table 1. […] Recommendations regarding treatment of intracranial ependymomas in children are summarized in Tables 2, 3, and 4. […] Standard salvage options for recurrent ependymomas have not been identified. However, re-operation as well as re-irradiation are increasingly employed. […] Recommendations regarding treatment of recurrent ependymomas are summarized in Table 3. […] Ependymal tumors of the spinal cord are more common in adults than in children. […] Recommendations regarding treatment of spinal cord ependymomas are summarized in Table 5. […] The aforementioned international molecular classification recognizes 9 molecular subgroups of ependymal tumors, 3 in each anatomical compartment of CNS. […] In conclusion, all these molecular subtypes with distinct prognosis will hopefully benefit from distinct personalized therapies.

• #1 Recent updates in supratentorial ependymoma with approach to integrated diagnosis: Review – IJPO

  https://www.ijpo.co.in/html-article/23466

  Ependymomas are a distinct entity of glial tumor. […] Clinical diagnosis was give as right parietal space occupying lesion. […] Features suggestive of primary malignant glial neoplasm. […] Histopathologically reported as Ependymomas with extensive intratumoral calcification. […] The ependymoma with extensive intratumoral calcification is rare finding. […] Ependymomas are glial tumors that derive from ependymal cells and can arise anywhere within the central nervous system. […] The supratentorial ependymoma molecular group includes those with fusion genes involving ZFTA (formerly C11orf95) or fusion genes involving YAP1. […] MRI with contrast enhancement is the modality of choice for diagnosing ependymal tumors. […] On CT imagining, supratentorial ependymoma appear as heterogenous masses due to cystic areas and calcification; hypointense to white matter with T1 MRI, hyperintense to white matter with T2 MRI.

• #1 Ependymoma Workup: Approach Considerations, Laboratory Studies, Imaging Studies

  https://emedicine.medscape.com/article/277621-workup

  For example, methylation profiling is required to further classify posterior fossa ependymomas into groups A and B. […] In spinal ependymomas, methylation profiling can provide key insight in the distinction between myxopapillary ependymomas, subependymomas, and MYC-N amplified spinal ependymomas. […] Other laboratory tests, such as genetic testing, can also have utility. […] Ependymomas have some characteristic features on CT scan and MRI that help narrow the differential diagnosis. Whenever possible, patients in whom an ependymoma is suspected should undergo MRI with and without administration of intravenous contrast. […] The radiographic features of posterior fossa ependymomas resemble that of supratentorial ependymomas. […] Most intramedullary tumors are isointense or slightly hypointense to the surrounding spinal cord on T1-weighted images.

• #1 Treatment of ependymoma in German clinics | Booking Health

  https://bookinghealth.com/diseases/ependymoma

  Imaging methods are the basis of diagnostics. Computed tomography (CT) or magnetic resonance imaging (MRI) is prescribed for the patient. […] Other diagnostics techniques are: […] Ultrasound is applied to detect the displacement of brain structures […] Electromyography and electroneurogram are used for assessment of movement disorders […] Lumbar puncture is performed for detection of abnormal cells and measurement of intracranial pressure […] Ophthalmoscopy is used to determine the signs of intracranial hypertension and check the eyesight, which can worsen because of the liquor outflow deterioration. […] Imaging methods can help to find the tumor, though ependymoma must be differentiated from other malformations of central nervous system like astrocytoma and medulloblastoma. Unlike other tumors, ependymoma has cysts and calcifications. Doctors assess tumor location and ability to accumulate the contrasting agent.

• #1 Ependymoma Differential Diagnoses

  https://emedicine.medscape.com/article/277621-differential

  With intracranial (posterior fossa) ependymoma, the differential diagnosis includes the following: […] With intracranial (supratentorial) ependymoma, the differential diagnosis includes the following: […] With spinal (intramedullary) ependymoma, the differential diagnosis includes the following: […] Other diagnostic considerations include the following:

• #1 Ependymoma differential diagnosis – wikidoc

  https://www.wikidoc.org/index.php/Ependymoma_differential_diagnosis

  On the basis of seizure, visual disturbance, and constitutional symptoms, ependymoma must be differentiated from oligodendroglioma, meningioma, hemangioblastoma, pituitary adenoma, schwannoma, primary CNS lymphoma, medulloblastoma, astrocytoma, craniopharyngioma, pinealoma, AV malformation, brain aneurysm, bacterial brain abscess, tuberculosis, toxoplasmosis, hydatid cyst, CNS cryptococcosis, CNS aspergillosis, and brain metastasis. […] On the basis of seizure, visual disturbance, and constitutional symptoms, ependymoma must be differentiated from oligodendroglioma, meningioma, hemangioblastoma, pituitary adenoma, schwannoma, primary CNS lymphoma, medulloblastoma, astrocytoma, craniopharyngioma, pinealoma, AV malformation, brain aneurysm, bacterial brain abscess, tuberculosis, toxoplasmosis, hydatid cyst, CNS cryptococcosis, CNS aspergillosis, and brain metastasis. […] Ependymoma causes an unusually persistent, continuous headache in children.

• #1 Development of a novel prediction model for differential diagnosis between spinal myxopapillary ependymoma and schwannoma | Scientific Reports

  https://www.nature.com/articles/s41598-023-50806-w

  Spinal myxopapillary ependymoma (MPE) and schwannoma represent clinically distinct intradural extramedullary tumors, albeit with shared and overlapping magnetic resonance imaging (MRI) characteristics. […] We aimed to identify significant MRI features that can differentiate between MPE and schwannoma and develop a novel prediction model using these features. […] MRI provides useful data for differentiating spinal MPEs from schwannomas. The prediction model developed based on the MRI features demonstrated excellent discriminatory performance. […] This study’s primary goal was to retrospectively identify the significant MRI findings that can distinguish between spinal MPEs and schwannomas. Additionally, we aimed to develop a novel prediction model based on these findings that could play a vital role in guiding appropriate surgical approaches and predicting prognostic outcomes.

• #1 Development of a novel prediction model for differential diagnosis between spinal myxopapillary ependymoma and schwannoma | Scientific Reports

  https://www.nature.com/articles/s41598-023-50806-w

  The objective of this study was to explore the MRI parameters that could potentially aid in the differentiation between spinal MPEs and schwannomas. Univariate analyses of MRI parameters showed that MPEs exhibited a significantly larger mean size as well as a significantly higher incidence of intratumoral T2 dark signal, focal and diffuse enhancement patterns, associated spinal SAH, and leptomeningeal seeding. […] The constructed prediction model, utilizing MRI parameters that exhibited statistical significance in univariate analyses, demonstrated excellent diagnostic performance in discriminating between the two tumors. […] Our results suggest that MRI can provide useful data to differentiate spinal MPEs from schwannomas. MRI features, including large size, presence of intratumoral T2 dark signal, focal and diffuse enhancement patterns, associated spinal SAH, and leptomeningeal seeding, were important discriminators suggesting the possibility of MPE.

• #1 Ependymoma | Concise Medical Knowledge

  https://www.lecturio.com/concepts/ependymoma/

  Magnetic resonance imaging is the imaging modality of choice, but histologic confirmation is required for diagnosis. […] Imaging is obtained 1st as part of the diagnostic work-up, but histologic evaluation is required for diagnosis. Imaging findings may suggest an ependymoma and guide surgery. […] Ependymoma is based on a histologic diagnosis; therefore, the gold standard for diagnosis is pathologic evaluation of a tissue specimen.

• #1 Ependymoma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538244/

  No current molecular or immunohistochemical markers are in routine use in the diagnostic workup for patients with ependymoma. […] The extent of surgical resection for intracranial ependymomas has been the most reliable and consistent independent prognostic factor. […] Patients who undergo complete resection without signs of residual disease have presented a better outcome and overall survival compared to patients who undergo partial resection. […] For this reason, treatment typically consists of aggressive surgical excision.

• #1 Ependymoma | Cedars-Sinai

  https://www.cedars-sinai.org/health-library/diseases-and-conditions/e/ependymoma.html

  Ependymoma can be hard to diagnose because it’s a rare tumor in adults. […] Your primary healthcare provider may refer you to a neurologist. This is a healthcare provider who specializes in diagnosing and treating diseases of the central nervous system. […] If a tumor is suspected, other tests may be done, such as: […] MRI. This test uses large magnets and a computer to create images of the inside of your body. MRI scans of your brain and spinal cord can be used to look for a tumor or learn more about it, such as where it is, how big it is, and if it has spread. […] Surgery. The tumor may be removed so that it can be examined. It will then be tested to find out the type and grade. […] Spinal tap (lumbar puncture). A small amount of CSF is taken from the space around your spine by putting a thin needle between the bones of your lower back. CSF is pulled into a syringe attached to the needle and checked for tumor cells. […] These tests are used to find out the size, location, type, grade, and other details about the tumor.

• #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

  The aim of this population-based study was to investigate genetic predisposition in children with molecularly classified ependymoma due to rare pathogenic germline variants both in and outside known cancer genes. […] Ultimately, the reclassification rate for patients histopathologically diagnosed with ependymoma and with available tumor tissue was 7.7% (3/39). […] The likelihood of diagnostic reclassification by DNA methylation profiling to a non-ependymoma tumor entity was significantly higher for children with detected pathogenic germline variants (2/4 vs. 0/29, Fishers exact test, p=0.011). […] In this context, it is worth noting that the reclassification rate in our study (7.7%) is comparable to that reported by Capper et al. […] Our findings establish ependymoma as a disease where germline pathogenic variants in known cancer genes only rarely play an underlying role, especially when precise molecular (re)classification is available.

• #1 Optimising biomarkers for accurate ependymoma diagnosis, prognostication and stratification within International Clinical Trials: A BIOMECA study | medRxiv

  https://www.medrxiv.org/content/10.1101/2022.11.24.22282659v1.full-text

  Our data aligns strongly with this recommendation. […] H3K27me3 expression represents a useful biomarker for settings with limited resources or where methylation profiling is not possible. […] Our data demonstrate significant inter-centre concordance using IHC and corresponding directly to those cases where fusion transcripts were detected using RT-PCR and sequencing or Nanostring, and additionally classified as ST-ZFTA using DNA methylation array. […] This study does not support FISH as a reliable method for assessment of 1q gain owing to the high failure rate observed by two centres (13-26%) and low (57%) inter-centre concordance. […] In assessing chromosome 1q gain and CDKN2A loss, we compared copy number analysis via three molecular methodologies: DNA methylation array, MIP and MLPA. […] The BIOMECA study makes recommendations for standardising ependymoma biomarkers across clinical trials in the years to come.

• #1 Molecular Stratification of Childhood Ependymomas as a Basis for Personalized Diagnostics and Treatment

  https://www.mdpi.com/2072-6694/13/19/4954

  The molecular diversity of ST-EPNs exceeds the currently established ZFTA-YAP stereotype. […] Given the patient data scarcity, advanced stratification within PF-EPN-B remains clinically irrelevant. […] Despite the principal shift in the EPN diagnostics and molecular stratification, its immediate impact on the existing treatment regimens is low.

• #1 Ependymoma: Symptoms, Treatment, Prognosis & Types

  https://my.clevelandclinic.org/health/diseases/23147-ependymoma

  An ependymoma is a tumor that forms in your brain or spinal cord. Providers grade them from 1 to 3 based on how quickly they spread. Grade 3 ependymomas are cancerous. Youll probably need surgery to remove the tumor. You might need other treatments like radiation or chemotherapy, too. […] A healthcare provider will diagnose an ependymoma with a physical exam, a neurological exam and some tests. Your provider may use some of the following tests to diagnose an ependymoma: Biopsy, CT scan, Lumbar puncture, MRI. […] Your healthcare provider will treat an ependymoma with: Surgery. Surgery is the most common ependymoma treatment. A surgeon will remove as much of the tumor as possible. Radiation therapy. Radiation therapy uses powerful X-rays to destroy tumor cells. You might need radiation before and/or after surgery. Chemotherapy (chemo). Chemo is medication that kills cancer cells. Youll usually only need chemo if the tumor has spread to other areas of your body. This is very rare with ependymomas. Immunotherapy. Youll take medications that boost your immune systems ability to fight cancer. Immunotherapy is a rare treatment for an ependymoma.

• #1 Ependymoma – tumour of the brain and spinal cord | Macmillan Cancer Support

  https://www.macmillan.org.uk/cancer-information-and-support/brain-tumour/ependymoma

  Surgery is the main treatment for an ependymoma. The aim of the surgery is to remove as much of the tumour as safely possible. Some types of ependymoma that can be completely removed do not usually need any other treatment. […] You may also have radiotherapy treatment if the tumour has not been completely removed, it is a type of ependymoma that is more likely to come back (recur). […] Chemotherapy uses anti-cancer drugs to destroy tumour cells. Chemotherapy is rarely used to treat ependymoma in adults. But sometimes doctors may suggest having chemotherapy if the tumour comes back. […] After your treatment has finished, you will have regular check-ups, tests and scans. How often you are seen and for how long may vary depending the size and type of tumour and any treatment you may have had. […] Following diagnosis and treatment for a brain tumour, most people will not be allowed to drive for a period of time. If you drive, it is important to discuss with your doctor how your diagnosis and treatment for a brain tumour affects your right to drive.

• #2 Ependymoma | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/ependymoma?lang=us

  Ependymomas represent a relatively broad group of glial tumors with ependymal differentiation. They often arise from or near the lining of the ventricles of the brain or the central canal of the spinal cord but also occur within the brain parenchyma. […] The unqualified term „ependymoma” should be used somewhat carefully as the entities included in this term vary in the literature and clinical practice. Generally, it is best to be specific, using the terminology of the WHO classification (see below). The five tumors included under the heading of „ependymal tumors” vary greatly in location, demographics, imaging features, histology, molecular characteristics, treatment and prognosis. They are, therefore, best thought of and discussed as separate entities. […] Overall, ependymomas have a bimodal distribution, with peaks in childhood and again later in adulthood. The incidence of different tumor types and locations varies greatly, with posterior fossa ependymomas predominating in childhood and spinal ependymomas in adulthood.

• #2

  https://www.advocatehealth.com/health-services/brain-spine-institute/brain-spine-tumors/ependymoma

  Ependymoma diagnosis can be difficult because its hard to tell the difference from other tumors. […] You’ll probably be referred to a neurologist since they specialize in diagnosing conditions that affect the brain and spine. Your care may also involve a neurosurgeon or a neuro-oncologist, who work with cancers that affect the nervous system. […] Your first visit to a specialist will include a regular physical exam along with a neurological exam. They’ll gather information by testing things like your balance, coordination, range of vision, reflexes, and the strength of your arms or legs. Your doctor will ask about your symptoms and how they started. […] Magnetic resonance imaging (MRI) testing will be ordered. It’ll probably include the use of a contrast dye to help find any cancerous cells because cancer cells absorb more dye than healthy cells.

• #2 Ependymoma – Symptoms, Diagnosis, and TreatmentSecond Opinion IconGroup 9Second Opinion IconGroup 9Group 49

  https://www.barrowneuro.org/condition/ependymoma/

  Ependymoma Diagnostics, Diagnosis […] Diagnosing an ependymoma can require multiple steps to determine the extent of the tumor. Your healthcare provider will use a combination of imaging studies, laboratory tests, and occasionally more invasive procedures for the most accurate diagnosis. […] The most common diagnostic tests for ependymoma include: […] Physical and neurological exam: First, your provider will begin by reviewing your symptoms, medical history, and any risk factors you may have. Next, your doctor will complete a neurological examination to check your vision, coordination, reflexes, strength, and other functions controlled by the brain and spinal cord. […] Magnetic Resonance Imaging (MRI): Imaging studies are crucial in visualizing brain and spine abnormalities. The most common test for diagnosing an ependymoma, an MRI, uses strong magnets and radio waves to provide detailed brain and spinal cord images to determine a tumor’s location, size, and characteristics. […] Computed Tomography (CT): CT scans rely on X-rays to create detailed cross-sectional images of the brain, helping to detect tumors while evaluating their size and location. […] Biopsy: To confirm the diagnosis of an ependymoma, your doctor may recommend a biopsy. During a biopsy, a small tumor sample is removed and sent to a pathology laboratory for analysis. […] Lumbar puncture: Also known as a spinal tap, a lumbar puncture involves a needle inserted into the lower back to collect cerebrospinal fluid (CSF) to test for the presence of cancerous cells. […] Positron Emission Tomography (PET) scan: PET scans evaluate the metabolic activity of brain tumors to determine their aggressiveness. […] Each test will help your healthcare providers confirm the extent of your ependymoma. If needed, additional tests may be run to assess its effects.

• #2 Ependymoma – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/ependymoma/diagnosis-treatment/drc-20580745

  Tests and procedures used to diagnose ependymoma include: […] During a neurological exam, a healthcare professional checks vision, hearing, balance, coordination, strength and reflexes. Problems in one or more of these areas may provide clues about the part of the brain or spinal cord that could be affected by a tumor. […] Imaging tests make pictures of the body. They can show the location and size of an ependymoma. MRI is often used to diagnose brain tumors. It may be used along with specialized MRI imaging, such as magnetic resonance angiography. Because ependymoma can happen in the brain and the spinal cord, imaging tests may be used to create pictures of both areas. […] Called a lumbar puncture or spinal tap, this procedure involves inserting a needle between two bones in the lower spine. The needle draws out fluid from around the spinal cord. The fluid is tested to look for tumor cells.

• #2 How is Ependymoma Diagnosed | CERN Foundation

  https://www.cern-foundation.org/education/diagnosis/how-is-ependymoma-diagnosed

  Usually, people with ependymoma are diagnosed after showing symptoms. […] A common diagnostic test that identifies potential neurologic problems is a magnetic resonance image or MRI. […] An MRI is typically the preferred test for people who may have a brain or spinal cord tumor. […] If the MRI shows a possible primary brain or spinal cord tumor, patients normally do not need other imaging tests of the body. […] MRI of the brain or spine is not only used as a baseline test, but may also be used to evaluate the whole central nervous system. […] Sometimes a lumbar puncture (spinal tap) is necessary if there is concern that the tumor has spread into the cerebrospinal fluid. […] Direct testing of the cerebrospinal fluid is done to look for the presence of tumor cells.

• #2 A Review of Radiographic Imaging Findings of Ependymal Tumors

  https://clinmedjournals.org/articles/ncr/neurosurgery-cases-and-reviews-ncr-2-028.php?jid=ncr

  Ependymomas are glial tumors that typically arise from the lining of the ventricles or the central canal of the spinal cord. The most common site of occurrence is within the posterior fossa. Subtypes of ependymomas include anaplastic ependymoma, myxopapillary ependymoma, and subependymoma. Its characteristic imaging features include findings of a heterogeneous mass with necrosis, calcifications, cystic changes, and hemorrhage. Treatment options includes partial resection with or without irradiation. […] Although there have been further advancements in understanding the biomechanics and genomics of this entity, to date, there are no distinguished radiographic findings that can determine the specific subtype solely based on imaging. There are, however, imaging features that can typically be distinguished between the adult and pediatric patients.

• #2 EANO guidelines for the diagnosis and treatment of ependymal tumors

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5909649/

  Ependymal tumors are rare CNS tumors and may occur at any age, but their proportion among primary brain tumors is highest in children and young adults. […] The diagnosis and disease staging is performed by craniospinal MRI. Tumor classification is achieved by histological and molecular diagnostic assessment of tissue specimens according to the World Health Organization (WHO) classification 2016. […] A gross total resection is the mainstay of treatment in spinal ependymomas, and radiotherapy is reserved for incompletely resected tumors. […] MRI with contrast enhancement is the modality of choice for diagnosing ependymal tumors. […] Advanced imaging modalities may assist in diagnosis or management in some clinical scenarios; however, the available data from the literature are too scarce and do not allow for definitive recommendations for daily clinical practice.

• #2 Ependymoma Workup: Approach Considerations, Laboratory Studies, Imaging Studies

  https://emedicine.medscape.com/article/277621-workup

  Although computed tomography (CT) is often the first imaging study performed in patients with possible central nervous system lesions, contrast-enhanced magnetic resonance imaging (MRI) of the brain or spine is the gold standard imaging study for ependymoma. CT lacks the resolution of MRI, especially in the posterior fossa, but can be used in patients who cannot have an MRI. […] Gross total resection, if feasible, is indicated to confirm the histologic diagnosis and to initiate treatment. Patients in whom gross total resection is not feasible should undergo biopsy (stereotactic or open) or subtotal resection. […] The most recent WHO 2021 Classification of CNS Tumors emphasizes the use of DNA methylation profiling to further determine the ependymal tumor subtype. By revealing epigenetic modifications in gene expression, methylation profiling can often serve as the first step in distinguishing molecular subtypes of ependymoma that arise in the same anatomical location.

• #2 EANO guidelines for the diagnosis and treatment of ependymal tumors

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5909649/

  Ependymal tumors are classified according to the WHO classification of CNS tumors 2016. […] Histological assessment is primarily based on hematoxylin/eosin-stained sections and some ancillary techniques, including silver impregnation for reticulin fibers, Alcian blue for demonstration of mucoid changes, and periodic acid-Schiff staining for glycogen. […] The 2016 WHO classification of CNS tumors includes 5 distinct entities of ependymal tumors. […] In the majority of studies, extent of resection has emerged as one of the most significant predictors of outcome. […] In adults, there is agreement that postoperative radiotherapy should be included in the standard of care for patients with anaplastic ependymoma (WHO grade III) and for patients with ependymomas (WHO grade II) after an incomplete resection.

• #2 Ependymoma Diagnosis & Treatment – NYC | Columbia Neurosurgery in New York City

  https://www.neurosurgery.columbia.edu/patient-care/conditions/ependymoma

  Ependymomas are brain tumors that arise from ependymal cells. The most common surgical treatment for ependymoma is craniotomy and surgical removal, and the most common nonsurgical treatment is stereotactic radiosurgery. […] Ependymomas are assigned a grade that reflects the appearance of the tumor cells under a microscope. Grade I designates a typical tumor cell appearance, Grade II a slightly atypical tumor cell appearance, and Grade III a significantly atypical tumor cell appearance. […] The key to diagnosing ependymomas is imaging. Computed tomography (CT) and magnetic resonance imaging (MRI) scans can show the tumor and surrounding brain tissue. MRI scan is the imaging study of choice because it yields superior tumor detail and may need to be conducted on the head and spine to detect metastases. […] To confirm a diagnosis, biopsy is required. The biopsy sample is almost always taken during surgery to remove the tumor.

• #2

  https://journals.lww.com/ijpm/fulltext/2022/65001/overview_of_recent_advances_in_the_classification.10.aspx

  Ependymomas can arise along the entire neuraxis; however, they possess site-specific unique molecular alterations and a methylome pattern which is directly related with the prognostic outcomes. […] The 2021 WHO classification of tumors of the CNS, fifth edition (WHO CNS5), has introduced major changes including molecular profiles as the basis of diagnosis in CNS tumor classification. […] Ependymomas are now classified according to a combination of histopathology features, anatomic sites, and molecular markers, thus dividing them into different molecular groups across the supratentorial (ST), posterior fossa (PF), and spinal compartments. […] The molecular classification of ependymomas is based on novel diagnostic technologies such as DNA methylome profiling and DNA sequencing. […] On the basis of the results of large cohort methylome profiling-based studies, WHO CNS5 has classified ependymomas into site-specific molecular predictive groups which bear significant prognostic relevance.

• #2 Ependymoma | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/ependymoma?lang=us

  Ependymal tumors can occur anywhere within the neuraxis; however, the distribution, histology and molecular characteristics, including DNA methylation profiling, are fairly site-dependent. As such the 5th edition (2021) WHO classification divides ependymal tumors into five distinct entities; three based on location, further subdivided according to molecular characteristics, and two other specific entities.

• #2

  https://journals.lww.com/ijpm/fulltext/2022/65001/overview_of_recent_advances_in_the_classification.10.aspx

  Different molecular techniques such as real-time polymerase chain reaction (RTPCR), fluorescent-in-situ hybridization (FISH), DNA sequencing, RNA sequencing, and methylation arrays can be used to identify site-specific genetic alteration. […] To conclude, unlike other glial tumors, ependymomas show site-specific molecular signatures with distinct clinical, demographic, and radiological features which are directly related to the predictive outcomes, tumor behavior, and prognosis.

• #2 EANO guidelines for the diagnosis and treatment of ependymal tumors

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5909649/

  The benefit of postoperative radiotherapy has been shown in terms of local control and survival rates in children with intracranial ependymomas. […] Recommendations regarding treatment of intracranial ependymomas in adults are summarized in Table 1. […] Recommendations regarding treatment of intracranial ependymomas in children are summarized in Tables 2, 3, and 4. […] Standard salvage options for recurrent ependymomas have not been identified. However, re-operation as well as re-irradiation are increasingly employed. […] Recommendations regarding treatment of recurrent ependymomas are summarized in Table 3. […] Ependymal tumors of the spinal cord are more common in adults than in children. […] Recommendations regarding treatment of spinal cord ependymomas are summarized in Table 5. […] The aforementioned international molecular classification recognizes 9 molecular subgroups of ependymal tumors, 3 in each anatomical compartment of CNS. […] In conclusion, all these molecular subtypes with distinct prognosis will hopefully benefit from distinct personalized therapies.

• #2 Ependymoma Workup: Approach Considerations, Laboratory Studies, Imaging Studies

  https://emedicine.medscape.com/article/277621-workup

  Lumbar puncture (LP) may be performed to aid in the differential diagnosis. However, LP is generally contraindicated in the setting of a posterior fossa tumor because of the risk of herniation. […] The presence of characteristic histologic features may have utility in supporting a diagnosis of ependymoma. […] No conventional staging criteria exist for intracranial or spinal ependymomas. […] Electroencephalography (EEG) performed on a patient with a supratentorial ependymoma may show generalized, diffuse slowing and/or epileptogenic spikes over the area of the tumor. However, no findings on EEG are specific for ependymoma.

• #2 Ependymoma differential diagnosis – wikidoc

  https://www.wikidoc.org/index.php/Ependymoma_differential_diagnosis

  On the basis of seizure, visual disturbance, and constitutional symptoms, ependymoma must be differentiated from oligodendroglioma, meningioma, hemangioblastoma, pituitary adenoma, schwannoma, primary CNS lymphoma, medulloblastoma, astrocytoma, craniopharyngioma, pinealoma, AV malformation, brain aneurysm, bacterial brain abscess, tuberculosis, toxoplasmosis, hydatid cyst, CNS cryptococcosis, CNS aspergillosis, and brain metastasis. […] On the basis of seizure, visual disturbance, and constitutional symptoms, ependymoma must be differentiated from oligodendroglioma, meningioma, hemangioblastoma, pituitary adenoma, schwannoma, primary CNS lymphoma, medulloblastoma, astrocytoma, craniopharyngioma, pinealoma, AV malformation, brain aneurysm, bacterial brain abscess, tuberculosis, toxoplasmosis, hydatid cyst, CNS cryptococcosis, CNS aspergillosis, and brain metastasis. […] Ependymoma causes an unusually persistent, continuous headache in children.

• #2 Treatment of ependymoma in German clinics | Booking Health

  https://bookinghealth.com/diseases/ependymoma

  Imaging methods are the basis of diagnostics. Computed tomography (CT) or magnetic resonance imaging (MRI) is prescribed for the patient. […] Other diagnostics techniques are: […] Ultrasound is applied to detect the displacement of brain structures […] Electromyography and electroneurogram are used for assessment of movement disorders […] Lumbar puncture is performed for detection of abnormal cells and measurement of intracranial pressure […] Ophthalmoscopy is used to determine the signs of intracranial hypertension and check the eyesight, which can worsen because of the liquor outflow deterioration. […] Imaging methods can help to find the tumor, though ependymoma must be differentiated from other malformations of central nervous system like astrocytoma and medulloblastoma. Unlike other tumors, ependymoma has cysts and calcifications. Doctors assess tumor location and ability to accumulate the contrasting agent.

• #2 Molecular Stratification of Childhood Ependymomas as a Basis for Personalized Diagnostics and Treatment

  https://www.mdpi.com/2072-6694/13/19/4954

  Over recent years, the diagnostics of CNS malignancies has been significantly reconsidered. […] The accent has been shifted from pathomorphology to molecular profiling and the search for clinically informative markers that would justify the selection of a particular therapy. […] Molecular subgrouping of EPNs is superior to histopathological grading based on the WHO criteria. […] An advanced EPN classification has been recently proposed by the Consortium to Inform Molecular and Practical Approaches to CNS Tumor Taxonomy (cIMPACT-NOW) update 7, aimed at connecting localization-dependent molecular groups with tumor progression modes and outcomes. […] The presence of recurrent ZFTA–RELA fusions has been repeatedly implicated as an adverse prognostic factor. […] The ultra-high risks conferred by the co-occurrence of cytogenetic markers in PF-EPN-A patients should be taken into account for the treatment regimen optimization.

• #2 Ependymoma: Diagnosis and Treatment – NCI

  https://www.cancer.gov/rare-brain-spine-tumor/tumors/ependymoma

  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. […] Ependymomas usually appear as one or more well-defined masses that often brighten with contrast on a magnetic resonance imaging (MRI) scan. […] The likely outcome of the disease or chance of recovery is called prognosis. Prognosis is based on the tumor grade, location, tumor type, extent of tumor spread, genetic findings, patients age, and tumor remaining after surgery (if surgery is possible).

• #2 Ependymoma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538244/

  No current molecular or immunohistochemical markers are in routine use in the diagnostic workup for patients with ependymoma. […] The extent of surgical resection for intracranial ependymomas has been the most reliable and consistent independent prognostic factor. […] Patients who undergo complete resection without signs of residual disease have presented a better outcome and overall survival compared to patients who undergo partial resection. […] For this reason, treatment typically consists of aggressive surgical excision.

• #2 Molecular Stratification of Childhood Ependymomas as a Basis for Personalized Diagnostics and Treatment

  https://www.mdpi.com/2072-6694/13/19/4954

  Molecular Stratification of Childhood Ependymomas as a Basis for Personalized Diagnostics and Treatment […] Ependymomas are among the most enigmatic tumors of the central nervous system, posing enormous challenges for pathologists and clinicians. […] Their histopathological evaluation alone is not sufficient for reliable diagnostics, prognosis, and choice of treatment strategy. […] The importance of integrated diagnosis for ependymomas is underscored in the recommendations of Consortium to Inform Molecular and Practical Approaches to CNS Tumor Taxonomy. […] This minireview highlights recent advances in comprehensive molecular-genetic characterization of ependymomas. […] Strong emphasis is made on the use of molecular approaches for verification and specification of histological diagnoses, as well as identification of prognostic markers for ependymomas in children.

• #2 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

  The aim of this population-based study was to investigate genetic predisposition in children with molecularly classified ependymoma due to rare pathogenic germline variants both in and outside known cancer genes. […] Ultimately, the reclassification rate for patients histopathologically diagnosed with ependymoma and with available tumor tissue was 7.7% (3/39). […] The likelihood of diagnostic reclassification by DNA methylation profiling to a non-ependymoma tumor entity was significantly higher for children with detected pathogenic germline variants (2/4 vs. 0/29, Fishers exact test, p=0.011). […] In this context, it is worth noting that the reclassification rate in our study (7.7%) is comparable to that reported by Capper et al. […] Our findings establish ependymoma as a disease where germline pathogenic variants in known cancer genes only rarely play an underlying role, especially when precise molecular (re)classification is available.

• #2 Pathology Outlines – Ependymoma overview

  https://www.pathologyoutlines.com/topic/cnstumorependymoma.html

  Diagnosis is made by integrating histologic features, tumor location and molecular findings (Neuro Oncol 2021;23:1231) […] Commonly discrete, well circumscribed mass with avid uniform contrast enhancement […] Hyperdense on computed tomography and T2 hyperintense on magnetic resonance imaging […] 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) […] Diagnosis is made by integrating histologic features, tumor location and molecular findings (Neuro Oncol 2021;23:1231) […] Complete resection is a predictor of good prognosis in PFA, PFB, PF-SE and SP-MP but not in ST-ZFTA.

• #2 Ependymoma: Symptoms, Treatment, Prognosis & Types

  https://my.clevelandclinic.org/health/diseases/23147-ependymoma

  An ependymoma is a tumor that forms in your brain or spinal cord. Providers grade them from 1 to 3 based on how quickly they spread. Grade 3 ependymomas are cancerous. Youll probably need surgery to remove the tumor. You might need other treatments like radiation or chemotherapy, too. […] A healthcare provider will diagnose an ependymoma with a physical exam, a neurological exam and some tests. Your provider may use some of the following tests to diagnose an ependymoma: Biopsy, CT scan, Lumbar puncture, MRI. […] Your healthcare provider will treat an ependymoma with: Surgery. Surgery is the most common ependymoma treatment. A surgeon will remove as much of the tumor as possible. Radiation therapy. Radiation therapy uses powerful X-rays to destroy tumor cells. You might need radiation before and/or after surgery. Chemotherapy (chemo). Chemo is medication that kills cancer cells. Youll usually only need chemo if the tumor has spread to other areas of your body. This is very rare with ependymomas. Immunotherapy. Youll take medications that boost your immune systems ability to fight cancer. Immunotherapy is a rare treatment for an ependymoma.

• #2 Molecular Stratification of Childhood Ependymomas as a Basis for Personalized Diagnostics and Treatment

  https://www.mdpi.com/2072-6694/13/19/4954

  The molecular diversity of ST-EPNs exceeds the currently established ZFTA-YAP stereotype. […] Given the patient data scarcity, advanced stratification within PF-EPN-B remains clinically irrelevant. […] Despite the principal shift in the EPN diagnostics and molecular stratification, its immediate impact on the existing treatment regimens is low.

• #3 Ependymoma | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/ependymoma?lang=us

  Ependymomas represent a relatively broad group of glial tumors with ependymal differentiation. They often arise from or near the lining of the ventricles of the brain or the central canal of the spinal cord but also occur within the brain parenchyma. […] The unqualified term „ependymoma” should be used somewhat carefully as the entities included in this term vary in the literature and clinical practice. Generally, it is best to be specific, using the terminology of the WHO classification (see below). The five tumors included under the heading of „ependymal tumors” vary greatly in location, demographics, imaging features, histology, molecular characteristics, treatment and prognosis. They are, therefore, best thought of and discussed as separate entities. […] Overall, ependymomas have a bimodal distribution, with peaks in childhood and again later in adulthood. The incidence of different tumor types and locations varies greatly, with posterior fossa ependymomas predominating in childhood and spinal ependymomas in adulthood.

• #3 Ependymoma | Brain Tumor Center | Stanford Medicine

  https://med.stanford.edu/brain-tumor/conditions/glioma/ependymoma.html

  Neurological examination, imaging, and tissue sampling are the mainstays of ependymoma diagnosis. […] Since the symptoms caused by ependymoma can be present with other illnesses, a careful evaluation is necessary to make a diagnosis, which may include: […] A thorough evaluation of the nervous system includes assessment of: mental status (awareness, memory), cranial nerves (nerves responsible for eye movement, taste, facial expressions), speech (speaking and understanding), muscle strength and grip, sensory function (ability to feel light touch, vibrations, temperature changes), balance and coordination, and reflexes. […] Magnetic resonance imaging (MRI) is often taken before and after the administration of intravenous contrast to visualize the tumor. […] A lumbar puncture is a medical procedure in which a needle is inserted into the lower part of the spinal column to collect a sample of cerebrospinal fluid (CSF). […] When the history, neurological examination, and images are concerning for an ependymoma, the next step is to obtain diagnostic tissue. A tissue sample is required to establish the diagnosis and accurately classify the glioma.

• #3 How is Ependymoma Diagnosed | CERN Foundation

  https://www.cern-foundation.org/education/diagnosis/how-is-ependymoma-diagnosed

  Usually, people with ependymoma are diagnosed after showing symptoms. […] A common diagnostic test that identifies potential neurologic problems is a magnetic resonance image or MRI. […] An MRI is typically the preferred test for people who may have a brain or spinal cord tumor. […] If the MRI shows a possible primary brain or spinal cord tumor, patients normally do not need other imaging tests of the body. […] MRI of the brain or spine is not only used as a baseline test, but may also be used to evaluate the whole central nervous system. […] Sometimes a lumbar puncture (spinal tap) is necessary if there is concern that the tumor has spread into the cerebrospinal fluid. […] Direct testing of the cerebrospinal fluid is done to look for the presence of tumor cells.

• #3 Ependymoma – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/ependymoma/diagnosis-treatment/drc-20580745

  Tests and procedures used to diagnose ependymoma include: […] During a neurological exam, a healthcare professional checks vision, hearing, balance, coordination, strength and reflexes. Problems in one or more of these areas may provide clues about the part of the brain or spinal cord that could be affected by a tumor. […] Imaging tests make pictures of the body. They can show the location and size of an ependymoma. MRI is often used to diagnose brain tumors. It may be used along with specialized MRI imaging, such as magnetic resonance angiography. Because ependymoma can happen in the brain and the spinal cord, imaging tests may be used to create pictures of both areas. […] Called a lumbar puncture or spinal tap, this procedure involves inserting a needle between two bones in the lower spine. The needle draws out fluid from around the spinal cord. The fluid is tested to look for tumor cells.

• #3 Ependymoma – Symptoms, Diagnosis, and TreatmentSecond Opinion IconGroup 9Second Opinion IconGroup 9Group 49

  https://www.barrowneuro.org/condition/ependymoma/

  Ependymoma Diagnostics, Diagnosis […] Diagnosing an ependymoma can require multiple steps to determine the extent of the tumor. Your healthcare provider will use a combination of imaging studies, laboratory tests, and occasionally more invasive procedures for the most accurate diagnosis. […] The most common diagnostic tests for ependymoma include: […] Physical and neurological exam: First, your provider will begin by reviewing your symptoms, medical history, and any risk factors you may have. Next, your doctor will complete a neurological examination to check your vision, coordination, reflexes, strength, and other functions controlled by the brain and spinal cord. […] Magnetic Resonance Imaging (MRI): Imaging studies are crucial in visualizing brain and spine abnormalities. The most common test for diagnosing an ependymoma, an MRI, uses strong magnets and radio waves to provide detailed brain and spinal cord images to determine a tumor’s location, size, and characteristics. […] Computed Tomography (CT): CT scans rely on X-rays to create detailed cross-sectional images of the brain, helping to detect tumors while evaluating their size and location. […] Biopsy: To confirm the diagnosis of an ependymoma, your doctor may recommend a biopsy. During a biopsy, a small tumor sample is removed and sent to a pathology laboratory for analysis. […] Lumbar puncture: Also known as a spinal tap, a lumbar puncture involves a needle inserted into the lower back to collect cerebrospinal fluid (CSF) to test for the presence of cancerous cells. […] Positron Emission Tomography (PET) scan: PET scans evaluate the metabolic activity of brain tumors to determine their aggressiveness. […] Each test will help your healthcare providers confirm the extent of your ependymoma. If needed, additional tests may be run to assess its effects.

• #3 Ependymoma Workup: Approach Considerations, Laboratory Studies, Imaging Studies

  https://emedicine.medscape.com/article/277621-workup

  Although computed tomography (CT) is often the first imaging study performed in patients with possible central nervous system lesions, contrast-enhanced magnetic resonance imaging (MRI) of the brain or spine is the gold standard imaging study for ependymoma. CT lacks the resolution of MRI, especially in the posterior fossa, but can be used in patients who cannot have an MRI. […] Gross total resection, if feasible, is indicated to confirm the histologic diagnosis and to initiate treatment. Patients in whom gross total resection is not feasible should undergo biopsy (stereotactic or open) or subtotal resection. […] The most recent WHO 2021 Classification of CNS Tumors emphasizes the use of DNA methylation profiling to further determine the ependymal tumor subtype. By revealing epigenetic modifications in gene expression, methylation profiling can often serve as the first step in distinguishing molecular subtypes of ependymoma that arise in the same anatomical location.

• #3 EANO guidelines for the diagnosis and treatment of ependymal tumors

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5909649/

  Ependymal tumors are rare CNS tumors and may occur at any age, but their proportion among primary brain tumors is highest in children and young adults. […] The diagnosis and disease staging is performed by craniospinal MRI. Tumor classification is achieved by histological and molecular diagnostic assessment of tissue specimens according to the World Health Organization (WHO) classification 2016. […] A gross total resection is the mainstay of treatment in spinal ependymomas, and radiotherapy is reserved for incompletely resected tumors. […] MRI with contrast enhancement is the modality of choice for diagnosing ependymal tumors. […] Advanced imaging modalities may assist in diagnosis or management in some clinical scenarios; however, the available data from the literature are too scarce and do not allow for definitive recommendations for daily clinical practice.

• #3 EANO guidelines for the diagnosis and treatment of ependymal tumors

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5909649/

  Ependymal tumors are classified according to the WHO classification of CNS tumors 2016. […] Histological assessment is primarily based on hematoxylin/eosin-stained sections and some ancillary techniques, including silver impregnation for reticulin fibers, Alcian blue for demonstration of mucoid changes, and periodic acid-Schiff staining for glycogen. […] The 2016 WHO classification of CNS tumors includes 5 distinct entities of ependymal tumors. […] In the majority of studies, extent of resection has emerged as one of the most significant predictors of outcome. […] In adults, there is agreement that postoperative radiotherapy should be included in the standard of care for patients with anaplastic ependymoma (WHO grade III) and for patients with ependymomas (WHO grade II) after an incomplete resection.

• #3 Ependymoma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538244/

  No current molecular or immunohistochemical markers are in routine use in the diagnostic workup for patients with ependymoma. […] The extent of surgical resection for intracranial ependymomas has been the most reliable and consistent independent prognostic factor. […] Patients who undergo complete resection without signs of residual disease have presented a better outcome and overall survival compared to patients who undergo partial resection. […] For this reason, treatment typically consists of aggressive surgical excision.

• #3 Molecular Stratification of Childhood Ependymomas as a Basis for Personalized Diagnostics and Treatment

  https://www.mdpi.com/2072-6694/13/19/4954

  Molecular Stratification of Childhood Ependymomas as a Basis for Personalized Diagnostics and Treatment […] Ependymomas are among the most enigmatic tumors of the central nervous system, posing enormous challenges for pathologists and clinicians. […] Their histopathological evaluation alone is not sufficient for reliable diagnostics, prognosis, and choice of treatment strategy. […] The importance of integrated diagnosis for ependymomas is underscored in the recommendations of Consortium to Inform Molecular and Practical Approaches to CNS Tumor Taxonomy. […] This minireview highlights recent advances in comprehensive molecular-genetic characterization of ependymomas. […] Strong emphasis is made on the use of molecular approaches for verification and specification of histological diagnoses, as well as identification of prognostic markers for ependymomas in children.

• #3 Optimising biomarkers for accurate ependymoma diagnosis, prognostication and stratification within International Clinical Trials: A BIOMECA study | medRxiv

  https://www.medrxiv.org/content/10.1101/2022.11.24.22282659v1.full-text

  It is critical to facilitate the identification, prognostication and stratification of ependymoma by linking these molecular tumour types to robustly validated biomarkers. […] An aim of the SIOP Ependymoma II clinical trial is to identify and validate prognostic biomarkers within the collaborative Biomarkers of Ependymoma in Children and Adolescents (BIOMECA) study. […] We were able to show that H3K27me3 IHC is both accurate and reproducible for the diagnosis of PFA ependymoma in a clinical trial setting. […] Our study suggests that TNC is not a useful marker for PF ependymoma, and that FISH should be abandoned as a technique for the assessment of copy number status in ependymoma. […] The integration of tumour-specific histopathology and molecular profiling is gaining pace, the updated 2021 WHO CNS5 classification of CNS tumours now lists ten molecularly defined types of ependymal tumours.

• #3 EANO guidelines for the diagnosis and treatment of ependymal tumors

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5909649/

  The benefit of postoperative radiotherapy has been shown in terms of local control and survival rates in children with intracranial ependymomas. […] Recommendations regarding treatment of intracranial ependymomas in adults are summarized in Table 1. […] Recommendations regarding treatment of intracranial ependymomas in children are summarized in Tables 2, 3, and 4. […] Standard salvage options for recurrent ependymomas have not been identified. However, re-operation as well as re-irradiation are increasingly employed. […] Recommendations regarding treatment of recurrent ependymomas are summarized in Table 3. […] Ependymal tumors of the spinal cord are more common in adults than in children. […] Recommendations regarding treatment of spinal cord ependymomas are summarized in Table 5. […] The aforementioned international molecular classification recognizes 9 molecular subgroups of ependymal tumors, 3 in each anatomical compartment of CNS. […] In conclusion, all these molecular subtypes with distinct prognosis will hopefully benefit from distinct personalized therapies.

• #4 Ependymoma – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/ependymoma/diagnosis-treatment/drc-20580745

  Tests and procedures used to diagnose ependymoma include: […] During a neurological exam, a healthcare professional checks vision, hearing, balance, coordination, strength and reflexes. Problems in one or more of these areas may provide clues about the part of the brain or spinal cord that could be affected by a tumor. […] Imaging tests make pictures of the body. They can show the location and size of an ependymoma. MRI is often used to diagnose brain tumors. It may be used along with specialized MRI imaging, such as magnetic resonance angiography. Because ependymoma can happen in the brain and the spinal cord, imaging tests may be used to create pictures of both areas. […] Called a lumbar puncture or spinal tap, this procedure involves inserting a needle between two bones in the lower spine. The needle draws out fluid from around the spinal cord. The fluid is tested to look for tumor cells.

• #4 How is Ependymoma Diagnosed | CERN Foundation

  https://www.cern-foundation.org/education/diagnosis/how-is-ependymoma-diagnosed

  Usually, people with ependymoma are diagnosed after showing symptoms. […] A common diagnostic test that identifies potential neurologic problems is a magnetic resonance image or MRI. […] An MRI is typically the preferred test for people who may have a brain or spinal cord tumor. […] If the MRI shows a possible primary brain or spinal cord tumor, patients normally do not need other imaging tests of the body. […] MRI of the brain or spine is not only used as a baseline test, but may also be used to evaluate the whole central nervous system. […] Sometimes a lumbar puncture (spinal tap) is necessary if there is concern that the tumor has spread into the cerebrospinal fluid. […] Direct testing of the cerebrospinal fluid is done to look for the presence of tumor cells.

• #4 Ependymoma Workup: Approach Considerations, Laboratory Studies, Imaging Studies

  https://emedicine.medscape.com/article/277621-workup

  Although computed tomography (CT) is often the first imaging study performed in patients with possible central nervous system lesions, contrast-enhanced magnetic resonance imaging (MRI) of the brain or spine is the gold standard imaging study for ependymoma. CT lacks the resolution of MRI, especially in the posterior fossa, but can be used in patients who cannot have an MRI. […] Gross total resection, if feasible, is indicated to confirm the histologic diagnosis and to initiate treatment. Patients in whom gross total resection is not feasible should undergo biopsy (stereotactic or open) or subtotal resection. […] The most recent WHO 2021 Classification of CNS Tumors emphasizes the use of DNA methylation profiling to further determine the ependymal tumor subtype. By revealing epigenetic modifications in gene expression, methylation profiling can often serve as the first step in distinguishing molecular subtypes of ependymoma that arise in the same anatomical location.

• #4 Ependymoma – Symptoms, Diagnosis, and TreatmentSecond Opinion IconGroup 9Second Opinion IconGroup 9Group 49

  https://www.barrowneuro.org/condition/ependymoma/

  Ependymoma Diagnostics, Diagnosis […] Diagnosing an ependymoma can require multiple steps to determine the extent of the tumor. Your healthcare provider will use a combination of imaging studies, laboratory tests, and occasionally more invasive procedures for the most accurate diagnosis. […] The most common diagnostic tests for ependymoma include: […] Physical and neurological exam: First, your provider will begin by reviewing your symptoms, medical history, and any risk factors you may have. Next, your doctor will complete a neurological examination to check your vision, coordination, reflexes, strength, and other functions controlled by the brain and spinal cord. […] Magnetic Resonance Imaging (MRI): Imaging studies are crucial in visualizing brain and spine abnormalities. The most common test for diagnosing an ependymoma, an MRI, uses strong magnets and radio waves to provide detailed brain and spinal cord images to determine a tumor’s location, size, and characteristics. […] Computed Tomography (CT): CT scans rely on X-rays to create detailed cross-sectional images of the brain, helping to detect tumors while evaluating their size and location. […] Biopsy: To confirm the diagnosis of an ependymoma, your doctor may recommend a biopsy. During a biopsy, a small tumor sample is removed and sent to a pathology laboratory for analysis. […] Lumbar puncture: Also known as a spinal tap, a lumbar puncture involves a needle inserted into the lower back to collect cerebrospinal fluid (CSF) to test for the presence of cancerous cells. […] Positron Emission Tomography (PET) scan: PET scans evaluate the metabolic activity of brain tumors to determine their aggressiveness. […] Each test will help your healthcare providers confirm the extent of your ependymoma. If needed, additional tests may be run to assess its effects.

• #4 EANO guidelines for the diagnosis and treatment of ependymal tumors

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5909649/

  Ependymal tumors are rare CNS tumors and may occur at any age, but their proportion among primary brain tumors is highest in children and young adults. […] The diagnosis and disease staging is performed by craniospinal MRI. Tumor classification is achieved by histological and molecular diagnostic assessment of tissue specimens according to the World Health Organization (WHO) classification 2016. […] A gross total resection is the mainstay of treatment in spinal ependymomas, and radiotherapy is reserved for incompletely resected tumors. […] MRI with contrast enhancement is the modality of choice for diagnosing ependymal tumors. […] Advanced imaging modalities may assist in diagnosis or management in some clinical scenarios; however, the available data from the literature are too scarce and do not allow for definitive recommendations for daily clinical practice.

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