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RELA fusion-positive ependymoma

MedGen UID:
927113
•Concept ID:
C4289581
•
Neoplastic Process
Synonyms: Ependymoma, RELA Fusion-Positive; Ependymoma, ZFTA-RELA Fusion-Positive; Supratentorial C11ORF95-RELA fused ependymoma; Supratentorial Ependymoma, RELA Fusion-Positive; Supratentorial Ependymoma, ZFTA-RELA Fusion-Positive; Supratentorial Ependymoma, ZFTA::RELA Fusion-Positive
SNOMED CT: RELA fusion-positive ependymoma (733868000)
 
Monarch Initiative: MONDO:0033980
Orphanet: ORPHA530792

Definition

A rare ependymal tumor characterized by the presence of a <i>RELA</i> fusion gene. This supratentorial grade II or III ependymoma most often occurs in children and young adults. Histopathological features are variable, but a distinctive vascular pattern of branching capillaries or clear-cell change are common. Patients may present with focal neurological deficits, seizures, or features of raised intracranial pressure. Prognosis is worse than in other supratentorial ependymomas. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRELA fusion-positive ependymoma

Professional guidelines

PubMed

Supratentorial non-RELA, ZFTA-fused ependymomas: a comprehensive phenotype genotype correlation highlighting the number of zinc fingers in ZFTA-NCOA1/2 fusions.
Tauziède-Espariat A, Siegfried A, Nicaise Y, Kergrohen T, Sievers P, Vasiljevic A, Roux A, Dezamis E, Benevello C, Machet MC, Michalak S, Puiseux C, Llamas-Gutierrez F, Leblond P, Bourdeaut F, Grill J, Dufour C, Guerrini-Rousseau L, Abbou S, Dangouloff-Ros V, Boddaert N, Saffroy R, Hasty L, Wahler E, Pagès M, Andreiuolo F, Lechapt E, Chrétien F, Blauwblomme T, Beccaria K, Pallud J, Puget S, Uro-Coste E, Varlet P; RENOCLIP-LOC, the BIOMECA (Biomarkers for Ependymomas in Children, Adolescents) consortium
Acta Neuropathol Commun 2021 Aug 13;9(1):135. doi: 10.1186/s40478-021-01238-y. PMID: 34389065Free PMC Article
DNA methylation-based classification of ependymomas in adulthood: implications for diagnosis and treatment.
Witt H, Gramatzki D, Hentschel B, Pajtler KW, Felsberg J, Schackert G, Löffler M, Capper D, Sahm F, Sill M, von Deimling A, Kool M, Herrlinger U, Westphal M, Pietsch T, Reifenberger G, Pfister SM, Tonn JC, Weller M; German Glioma Network
Neuro Oncol 2018 Nov 12;20(12):1616-1624. doi: 10.1093/neuonc/noy118. PMID: 30053291Free PMC Article

Recent clinical studies

Etiology

Ependymomas.
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
RELA Fusion-Positive Ependymoma in a Child with Down Syndrome: A Case Report.
Chan JL, Kashanian A, Bannykh SI, Majlessipour F, Breunig JJ, Danielpour M
Pediatr Neurosurg 2021;56(2):146-151. Epub 2021 Mar 9 doi: 10.1159/000511673. PMID: 33690230
DNA methylation-based classification of ependymomas in adulthood: implications for diagnosis and treatment.
Witt H, Gramatzki D, Hentschel B, Pajtler KW, Felsberg J, Schackert G, Löffler M, Capper D, Sahm F, Sill M, von Deimling A, Kool M, Herrlinger U, Westphal M, Pietsch T, Reifenberger G, Pfister SM, Tonn JC, Weller M; German Glioma Network
Neuro Oncol 2018 Nov 12;20(12):1616-1624. doi: 10.1093/neuonc/noy118. PMID: 30053291Free PMC Article
WHO 2016 Classification of gliomas.
Wesseling P, Capper D
Neuropathol Appl Neurobiol 2018 Feb;44(2):139-150. doi: 10.1111/nan.12432. PMID: 28815663

Diagnosis

Ependymomas.
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
Supratentorial extra-axial RELA fusion-positive ependymoma misdiagnosed as meningioma by intraoperative histological and cytological examinations: a case report.
Nagayasu MA, Fukushima T, Matsumoto F, Takeshima H, Sato Y, Kataoka H
J Med Case Rep 2022 Aug 20;16(1):312. doi: 10.1186/s13256-022-03555-9. PMID: 35986385Free PMC Article
RELA fusion-positive ependymoma accompanied by extensive desmoplasia: a case report.
Fukushima T, Ueda T, Hirato J, Kataoka H
Brain Tumor Pathol 2020 Oct;37(4):159-164. Epub 2020 Aug 4 doi: 10.1007/s10014-020-00376-w. PMID: 32754892
WHO 2016 Classification of gliomas.
Wesseling P, Capper D
Neuropathol Appl Neurobiol 2018 Feb;44(2):139-150. doi: 10.1111/nan.12432. PMID: 28815663
The 2016 World Health Organization Classification of Tumors of the Central Nervous System: a summary.
Louis DN, Perry A, Reifenberger G, von Deimling A, Figarella-Branger D, Cavenee WK, Ohgaki H, Wiestler OD, Kleihues P, Ellison DW
Acta Neuropathol 2016 Jun;131(6):803-20. Epub 2016 May 9 doi: 10.1007/s00401-016-1545-1. PMID: 27157931

Prognosis

Ependymomas.
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
RELA Fusion-Positive Ependymoma in a Child with Down Syndrome: A Case Report.
Chan JL, Kashanian A, Bannykh SI, Majlessipour F, Breunig JJ, Danielpour M
Pediatr Neurosurg 2021;56(2):146-151. Epub 2021 Mar 9 doi: 10.1159/000511673. PMID: 33690230
Ependymoma with C11orf95-MAML2 fusion: presenting with granular cell and ganglion cell features.
Tamai S, Nakano Y, Kinoshita M, Sabit H, Nobusawa S, Arai Y, Hama N, Totoki Y, Shibata T, Ichimura K, Nakada M
Brain Tumor Pathol 2021 Jan;38(1):64-70. Epub 2020 Nov 22 doi: 10.1007/s10014-020-00388-6. PMID: 33221956
L1CAM High Expression Associates with Poor Prognosis in Glioma but Does Not Correlate with C11orf95-RELA Fusion.
Zeng J, Xi SY, Wang F, Liao HD, Yang YZ, Hu WM
Biomed Res Int 2020;2020:1353284. Epub 2020 May 16 doi: 10.1155/2020/1353284. PMID: 32509846Free PMC Article
DNA methylation-based classification of ependymomas in adulthood: implications for diagnosis and treatment.
Witt H, Gramatzki D, Hentschel B, Pajtler KW, Felsberg J, Schackert G, Löffler M, Capper D, Sahm F, Sill M, von Deimling A, Kool M, Herrlinger U, Westphal M, Pietsch T, Reifenberger G, Pfister SM, Tonn JC, Weller M; German Glioma Network
Neuro Oncol 2018 Nov 12;20(12):1616-1624. doi: 10.1093/neuonc/noy118. PMID: 30053291Free PMC Article

Clinical prediction guides

Supratentorial extra-axial RELA fusion-positive ependymoma misdiagnosed as meningioma by intraoperative histological and cytological examinations: a case report.
Nagayasu MA, Fukushima T, Matsumoto F, Takeshima H, Sato Y, Kataoka H
J Med Case Rep 2022 Aug 20;16(1):312. doi: 10.1186/s13256-022-03555-9. PMID: 35986385Free PMC Article
RELA fusion-positive ependymoma accompanied by extensive desmoplasia: a case report.
Fukushima T, Ueda T, Hirato J, Kataoka H
Brain Tumor Pathol 2020 Oct;37(4):159-164. Epub 2020 Aug 4 doi: 10.1007/s10014-020-00376-w. PMID: 32754892

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