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Ependymoma

MedGen UID:
41825
Concept ID:
C0014474
Neoplastic Process
Synonyms: Cellular ependymoma (histologic variant); Clear cell ependymoma (histologic variant); Ependymoma, familial; Papillary ependymoma (histologic variant); Tanycytic ependymoma (histologic variant)
SNOMED CT: Ependymoma (443643007); Ependymoma (1186904005)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
HPO: HP:0002888
Monarch Initiative: MONDO:0016698
OMIM®: 137800
Orphanet: ORPHA251636

Definition

The presence of an ependymoma of the central nervous system. [from HPO]

Conditions with this feature

Neurofibromatosis, type 2
MedGen UID:
18014
Concept ID:
C0027832
Neoplastic Process
Neurofibromatosis 2 (NF2) is characterized by bilateral vestibular schwannomas with associated symptoms of tinnitus, hearing loss, and balance dysfunction. The average age of onset is 18 to 24 years. Almost all affected individuals develop bilateral vestibular schwannomas by age 30 years. Affected individuals may also develop schwannomas of other cranial and peripheral nerves, meningiomas, ependymomas, and, very rarely, astrocytomas. Because NF2 is considered an adult-onset disease, it may be underrecognized in children, in whom skin tumors and ocular findings (retinal hamartoma, thickened optic nerves, cortical wedge cataracts, third cranial nerve palsy) may be the first manifestations. Mononeuropathy that occurs in childhood is an increasingly recognized finding; it frequently presents as a persistent facial palsy or hand/foot drop.
Tuberous sclerosis 1
MedGen UID:
344288
Concept ID:
C1854465
Disease or Syndrome
Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical tubers, and subependymal giant cell astrocytomas [SEGAs], seizures, intellectual disability / developmental delay, psychiatric illness); kidney (angiomyolipomas, cysts, renal cell carcinomas); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system tumors are the leading cause of morbidity and mortality; renal disease is the second leading cause of early death.
Tuberous sclerosis 2
MedGen UID:
348170
Concept ID:
C1860707
Disease or Syndrome
Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical tubers, and subependymal giant cell astrocytomas [SEGAs], seizures, intellectual disability / developmental delay, psychiatric illness); kidney (angiomyolipomas, cysts, renal cell carcinomas); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system tumors are the leading cause of morbidity and mortality; renal disease is the second leading cause of early death.
Glioma susceptibility 1
MedGen UID:
413414
Concept ID:
C2750850
Finding
Gliomas are central nervous system neoplasms derived from glial cells and comprise astrocytomas, glioblastoma multiforme, oligodendrogliomas, ependymomas, and subependymomas. Glial cells can show various degrees of differentiation even within the same tumor (summary by Kyritsis et al., 2010). Ependymomas are rare glial tumors of the brain and spinal cord (Yokota et al., 2003). Subependymomas are unusual tumors believed to arise from the bipotential subependymal cell, which normally differentiates into either ependymal cells or astrocytes. They were characterized as a distinct entity by Scheinker (1945). They tend to be slow-growing, noninvasive, and located in the ventricular system, septum pellucidum, cerebral aqueduct, or proximal spinal cord (summary by Ryken et al., 1994). Gliomas are known to occur in association with several other well-defined hereditary tumor syndromes such as mismatch repair cancer syndrome (see 276300), melanoma-astrocytoma syndrome (155755), neurofibromatosis-1 (NF1; 162200) and neurofibromatosis-2 (see SWNV, 101000), and tuberous sclerosis (TSC1; 191100). Familial clustering of gliomas may occur in the absence of these tumor syndromes, however. Genetic Heterogeneity of Susceptibility to Glioma Other glioma susceptibilities include GLM2 (613028), caused by variation in the PTEN gene (601728) on chromosome 10q23; GLM3 (613029), caused by variation in the BRCA2 gene (600185) on chromosome 13q13; GLM4 (607248), mapped to chromosome 15q23-q26.3; GLM5 (613030), mapped to chromosome 9p21; GLM6 (613031), mapped to chromosome 20q13; GLM7 (613032), mapped to chromosome 8q24; GLM8 (613033), mapped to chromosome 5p15; and GLM9, caused by variation in the POT1 gene (606478) on chromosome 7q31. Somatic mutation, disruption, or copy number variation of the following genes or loci may also contribute to the formation of glioma: ERBB (EGFR; 131550), ERBB2 (164870), LGI1 (604619), GAS41 (602116), GLI (165220), DMBT1 (601969), IDH1 (147700), IDH2 (147650), BRAF (164757), PARK2 (602544), TP53 (191170), RB1 (614041), PIK3CA (171834), 10p15, 19q, and 17p13.3.
Mismatch repair cancer syndrome 1
MedGen UID:
1748029
Concept ID:
C5399763
Disease or Syndrome
Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small bowel, urinary tract, biliary tract, brain (usually glioblastoma), skin (sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas), pancreas, and prostate. Cancer risks and age of onset vary depending on the associated gene. Several other cancer types have been reported to occur in individuals with Lynch syndrome (e.g., breast, sarcomas, adrenocortical carcinoma). However, the data are not sufficient to demonstrate that the risk of developing these cancers is increased in individuals with Lynch syndrome.

Professional guidelines

PubMed

Rudà R, Bruno F, Pellerino A, Soffietti R
Curr Oncol Rep 2022 Aug;24(8):985-993. Epub 2022 Apr 6 doi: 10.1007/s11912-022-01260-w. PMID: 35384591Free PMC Article
Pollack IF, Agnihotri S, Broniscer A
J Neurosurg Pediatr 2019 Mar 1;23(3):261-273. doi: 10.3171/2018.10.PEDS18377. PMID: 30835699Free PMC Article
Rudà R, Reifenberger G, Frappaz D, Pfister SM, Laprie A, Santarius T, Roth P, Tonn JC, Soffietti R, Weller M, Moyal EC
Neuro Oncol 2018 Mar 27;20(4):445-456. doi: 10.1093/neuonc/nox166. PMID: 29194500Free PMC Article

Curated

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Central Nervous System Cancers, 2023

Recent clinical studies

Etiology

Bertero L, Ricci AA, Tampieri C, Cassoni P, Modena P
Pathologica 2022 Dec;114(6):436-446. doi: 10.32074/1591-951X-817. PMID: 36534422Free PMC Article
Rudà R, Bruno F, Pellerino A, Soffietti R
Curr Oncol Rep 2022 Aug;24(8):985-993. Epub 2022 Apr 6 doi: 10.1007/s11912-022-01260-w. PMID: 35384591Free PMC Article
Kresbach C, Neyazi S, Schüller U
Brain Pathol 2022 Jul;32(4):e13068. Epub 2022 Mar 21 doi: 10.1111/bpa.13068. PMID: 35307892Free PMC Article
Gilbert MR, Yuan Y, Wu J, Mendoza T, Vera E, Omuro A, Lieberman F, Robins HI, Gerstner ER, Wu J, Wen PY, Mikkelsen T, Aldape K, Armstrong TS
Neuro Oncol 2021 Mar 25;23(3):468-477. doi: 10.1093/neuonc/noaa240. PMID: 33085768Free PMC Article
Levine AB, Wong D, Fatehi M, Yip S
Neurosurgery 2020 Oct 15;87(5):860-870. doi: 10.1093/neuros/nyaa329. PMID: 33057707

Diagnosis

Bertero L, Ricci AA, Tampieri C, Cassoni P, Modena P
Pathologica 2022 Dec;114(6):436-446. doi: 10.32074/1591-951X-817. PMID: 36534422Free PMC Article
Rudà R, Bruno F, Pellerino A, Soffietti R
Curr Oncol Rep 2022 Aug;24(8):985-993. Epub 2022 Apr 6 doi: 10.1007/s11912-022-01260-w. PMID: 35384591Free PMC Article
Levine AB, Wong D, Fatehi M, Yip S
Neurosurgery 2020 Oct 15;87(5):860-870. doi: 10.1093/neuros/nyaa329. PMID: 33057707
Gerstner ER, Pajtler KW
Semin Neurol 2018 Feb;38(1):104-111. Epub 2018 Mar 16 doi: 10.1055/s-0038-1636503. PMID: 29548057
Vitanza NA, Partap S
J Child Neurol 2016 Oct;31(12):1354-66. Epub 2015 Oct 26 doi: 10.1177/0883073815610428. PMID: 26503805

Therapy

Smith HL, Wadhwani N, Horbinski C
Neurotherapeutics 2022 Oct;19(6):1691-1704. Epub 2022 May 16 doi: 10.1007/s13311-022-01249-0. PMID: 35578106Free PMC Article
Gilbert MR, Yuan Y, Wu J, Mendoza T, Vera E, Omuro A, Lieberman F, Robins HI, Gerstner ER, Wu J, Wen PY, Mikkelsen T, Aldape K, Armstrong TS
Neuro Oncol 2021 Mar 25;23(3):468-477. doi: 10.1093/neuonc/noaa240. PMID: 33085768Free PMC Article
Merchant TE, Bendel AE, Sabin ND, Burger PC, Shaw DW, Chang E, Wu S, Zhou T, Eisenstat DD, Foreman NK, Fuller CE, Anderson ET, Hukin J, Lau CC, Pollack IF, Laningham FH, Lustig RH, Armstrong FD, Handler MH, Williams-Hughes C, Kessel S, Kocak M, Ellison DW, Ramaswamy V
J Clin Oncol 2019 Apr 20;37(12):974-983. Epub 2019 Feb 27 doi: 10.1200/JCO.18.01765. PMID: 30811284Free PMC Article
Sartor EA, Wen PY
J Neurosurg Sci 2018 Feb;62(1):71-77. Epub 2017 Sep 22 doi: 10.23736/S0390-5616.17.04211-4. PMID: 28945055
Chamberlain MC
Curr Neurol Neurosci Rep 2003 May;3(3):193-9. doi: 10.1007/s11910-003-0078-x. PMID: 12691623

Prognosis

Jünger ST, Timmermann B, Pietsch T
Childs Nerv Syst 2021 Aug;37(8):2451-2463. Epub 2021 May 18 doi: 10.1007/s00381-021-05207-7. PMID: 34008056Free PMC Article
Neumann JE, Spohn M, Obrecht D, Mynarek M, Thomas C, Hasselblatt M, Dorostkar MM, Wefers AK, Frank S, Monoranu CM, Koch A, Witt H, Kool M, Pajtler KW, Rutkowski S, Glatzel M, Schüller U
Acta Neuropathol 2020 Feb;139(2):305-318. Epub 2019 Nov 2 doi: 10.1007/s00401-019-02090-0. PMID: 31679042
Sofuoğlu ÖE, Abdallah A
Med Sci Monit 2018 Oct 5;24:7072-7089. doi: 10.12659/MSM.910447. PMID: 30287802Free PMC Article
Hübner JM, Kool M, Pfister SM, Pajtler KW
J Neurosurg Sci 2018 Feb;62(1):46-50. Epub 2017 Sep 8 doi: 10.23736/S0390-5616.17.04152-2. PMID: 28895660
Reni M, Gatta G, Mazza E, Vecht C
Crit Rev Oncol Hematol 2007 Jul;63(1):81-9. Epub 2007 May 4 doi: 10.1016/j.critrevonc.2007.03.004. PMID: 17482475

Clinical prediction guides

Träger M, Schweizer L, Pérez E, Schmid S, Hain EG, Dittmayer C, Onken J, Fukuoka K, Ichimura K, Schüller U, Dührsen L, Müther M, Paulus W, Thomas C, Gutt-Will M, Schucht P, Maragkou T, Schittenhelm J, Eckert F, Niyazi M, Fleischmann DF, Dorostkar MM, Feyer P, May SA, Moskopp D, Badakhshi H, Radke C, Walter J, Ehret F, Capper D, Kaul D
Neuro Oncol 2023 Jul 6;25(7):1286-1298. doi: 10.1093/neuonc/noad030. PMID: 36734226Free PMC Article
Kresbach C, Neyazi S, Schüller U
Brain Pathol 2022 Jul;32(4):e13068. Epub 2022 Mar 21 doi: 10.1111/bpa.13068. PMID: 35307892Free PMC Article
Stuckert A, Bertrand KC, Wang P, Smith A, Mack SC
J Neurooncol 2020 Oct;150(1):57-61. Epub 2020 Sep 22 doi: 10.1007/s11060-020-03562-0. PMID: 32964355
Merchant TE, Bendel AE, Sabin ND, Burger PC, Shaw DW, Chang E, Wu S, Zhou T, Eisenstat DD, Foreman NK, Fuller CE, Anderson ET, Hukin J, Lau CC, Pollack IF, Laningham FH, Lustig RH, Armstrong FD, Handler MH, Williams-Hughes C, Kessel S, Kocak M, Ellison DW, Ramaswamy V
J Clin Oncol 2019 Apr 20;37(12):974-983. Epub 2019 Feb 27 doi: 10.1200/JCO.18.01765. PMID: 30811284Free PMC Article
Yao Y, Mack SC, Taylor MD
Chin J Cancer 2011 Oct;30(10):669-81. doi: 10.5732/cjc.011.10129. PMID: 21959044Free PMC Article

Recent systematic reviews

Jankovic D, Hanissian A, Rotim K, Splavski B, Arnautovic KI
World Neurosurg 2022 Feb;158:1-10. Epub 2021 Oct 21 doi: 10.1016/j.wneu.2021.10.105. PMID: 34687932
Kweh BTS, Rosenfeld JV, Hunn M, Tee JW
J Neurosurg 2022 Mar 1;136(3):736-748. Epub 2021 Aug 20 doi: 10.3171/2021.2.JNS204052. PMID: 34416731
Hamilton KR, Lee SS, Urquhart JC, Jonker BP
J Clin Neurosci 2019 May;63:168-175. Epub 2019 Mar 2 doi: 10.1016/j.jocn.2019.02.001. PMID: 30833131
Nieder C, Andratschke NH, Grosu AL
Anticancer Res 2016 Oct;36(10):4985-4995. doi: 10.21873/anticanres.11067. PMID: 27798857
Grill J, Pascal C, Chantal K
Paediatr Drugs 2003;5(8):533-43. doi: 10.2165/00148581-200305080-00004. PMID: 12895136

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NCCN, 2023
      NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Central Nervous System Cancers, 2023

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