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

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.

Molecular Testing of Brain Tumor

“…The K27M in H3F3A is a major mutation found in diffuse midline gliomas [22-25]. Additionally, a C11orf95-RELA fusion was found in supratentorial ependymomas [26-34]. A V600E mutation in BRAF was found in circumscribed gliomas, such as pleomorphic xanthoastrocytoma (PXA) (66%) [35-38], gangliogliomas (25%) [35,38], and pilocytic astrocytomas (15%) [35,38].…”

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

“…However, a few studies have reported favorable outcomes in patients diagnosed with RELA fusion-positive ependymoma and who had undergone with gross total resection [ 17 , 18 ]. C11orf95-RELA fusion gene was previously reported in one SEAE case with a history of 6-month follow-up and no recurrence [ 10 ]. The present case with the same fusion gene detected had two recurrences during the postoperative follow-up period of 1 and 4 years, and the patient died 4 months after the second recurrence.…”

“…[ 9 ] 43, F Lt posterior one-third parasagittal/7.2 × 5.9 × 4 Meningioma (meningioma, favor) GTR Classical Ep/II RT 6 NR 5 Nambirajan et al . [ 10 ] 9, F Rt frontal parafalcine/NA Meningioma Hemangiopericytoma GTR Anaplastic, focal clear-cell, Ep/III RT 6 NR C11orf95-RELA fusion gene (+) 6 Yang et al . [ 11 ] 47, M Lt middle-third parafalcine/3.8 × 3.2 × 2.1 Meningioma GTR Anaplastic Ep/III RT 53 NR Preoperative gamma knife radiosurgery 7 Yang et al .…”

Recent Advancement of the Molecular Diagnosis in Pediatric Brain Tumor

“…About 70% of cases of supratentorial ependymomas are characterized by RELA-C11orf95 fusion and 30% by YAP1 gene fusion [ 43 , 77 ]. It is known that the LAMA2 overexpression group show worse prognosis than NELL2 overexpression group among the cases of posterior fossa ependymomas [ 1 , 46 ].…”

“…The partner gene can be a gene other than C11orf95. The grade of this tumor follows a pathologic grade that is evaluated according to existing morphologic features, but the prognosis is worse in the case of RELA fusion than YAP fusion [ 43 , 51 ].…”