Literature DB >> 27121356

C11orf95-RELA fusion present in a primary intracranial extra-axial ependymoma: Report of a case with literature review.

Aruna Nambirajan1, Prit Benny Malgulwar1, Mehar C Sharma1, Anutosh Singh2, Pankaj Pathak1, Guru Dutta Satyarthee2, Ajay Garg3.   

Abstract

Ependymomas are gliomas that recapitulate the ependymal cells microscopically and ultrastructurally. They commonly occur along the ventricular surfaces and central canal of the brain and spinal cord. Intracranial extra-axial ependymoma (IEAE) is a rare entity and is commonly misdiagnosed clinically and radiologically as a meningioma. The histogenesis of such IEAEs is obscure. A novel recurrent oncogenic fusion involving the C11orf95 and RELA genes was recently described in supratentorial ependymomas. A 9-year-old girl presented with a dural based parafalcine mass that, in addition to exhibiting classical immunohistochemical features of an ependymoma, also demonstrated C11orf95-RELA fusion, characteristic of supratentorial ependymomas. We suggest that IEAEs share their histogenesis with their intra-axial counterparts, arising either from dural extension of subcortical, subependymal rests or directly from ectopic dural rests.
© 2016 Japanese Society of Neuropathology.

Entities:  

Keywords:  RELA; clear cell; ependymoma; extra-axial; supratentorial

Mesh:

Substances:

Year:  2016        PMID: 27121356     DOI: 10.1111/neup.12299

Source DB:  PubMed          Journal:  Neuropathology        ISSN: 0919-6544            Impact factor:   1.906


  3 in total

Review 1.  Molecular Testing of Brain Tumor.

Authors:  Sung-Hye Park; Jaekyung Won; Seong-Ik Kim; Yujin Lee; Chul-Kee Park; Seung-Ki Kim; Seung-Hong Choi
Journal:  J Pathol Transl Med       Date:  2017-05-12

2.  Supratentorial extra-axial RELA fusion-positive ependymoma misdiagnosed as meningioma by intraoperative histological and cytological examinations: a case report.

Authors:  Mayumi Akaki Nagayasu; Tsuyoshi Fukushima; Fumitaka Matsumoto; Hideo Takeshima; Yuichiro Sato; Hiroaki Kataoka
Journal:  J Med Case Rep       Date:  2022-08-20

Review 3.  Recent Advancement of the Molecular Diagnosis in Pediatric Brain Tumor.

Authors:  Jeong-Mo Bae; Jae-Kyung Won; Sung-Hye Park
Journal:  J Korean Neurosurg Soc       Date:  2018-05-01
  3 in total

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