C11orf95-RELA fusion present in a primary supratentorial ependymoma and recurrent sarcoma.
Ependymomas are rare glial tumors of the central nervous system that arise from the cells lining the ventricles and central canal within the spinal cord. The distribution of these tumors along the neuroaxis varies by age, most commonly involving the spinal cord in adults and the posterior fossa in children. It is becoming evident that ependymomas of infratentorial, supratentorial, and spinal cord location are genetically distinct which may explain the differences in clinical outcomes. A novel oncogenic fusion involving the C11orf95 and RELA genes was recently described in supratentorial ependymomas that results in constitutive aberrant activation of the nuclear factor-kB signaling pathway. Ependymosarcomas are rare neoplasms in which a malignant mesenchymal component arises within an ependymoma. We here describe a case of a sarcoma developing in a patient previously treated with chemotherapy and radiation whose original ependymoma and recurrent sarcoma were both shown to carry the type 1 C11orf95-RELA fusion transcript indicating a monoclonal origin for both tumors.
Department of Neuro-Oncology, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd, Houston, TX, 77030, USA, dcachia@mdanderson.org.
David
D
Cachia
Khalida
K
Wani
Marta
M
Penas-Prado
Adriana
A
Olar
Ian E
IE
McCutcheon
Robert S
RS
Benjamin
Terri S
TS
Armstrong
Mark R
MR
Gilbert
Kenneth D
KD
Aldape
D000328:Adult; D004806:Ependymoma / Q000235:genetics* / Q000473:pathology; D005260:Female; D050939:Gene Fusion; D006801:Humans; D008279:Magnetic Resonance Imaging; D016328:NF-kappa B / Q000235:genetics; D009364:Neoplasm Recurrence, Local / Q000235:genetics / Q000473:pathology; D009378:Neoplasms, Multiple Primary / Q000235:genetics*; D039842:Neural Cell Adhesion Molecule L1; D011506:Proteins / Q000235:genetics*; D011993:Recombinant Fusion Proteins / Q000235:genetics*; D012509:Sarcoma / Q000235:genetics* / Q000473:pathology; D015398:Signal Transduction / Q000235:genetics; D015173:Supratentorial Neoplasms / Q000235:genetics* / Q000473:pathology; D051996:Transcription Factor RelA / Q000235:genetics*; D014158:Transcription, Genetic / Q000235:genetics; D014157:Transcription Factors
D016328:NF-kappa B; D039842:Neural Cell Adhesion Molecule L1; D011506:Proteins; D011993:Recombinant Fusion Proteins; D051996:Transcription Factor RelA; C585140:ZFTA protein, human; D014157:Transcription Factors; C498143:RELA protein, human