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 c...

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Bibliographic Details
Published in:Brain tumor pathology 2015-04, Vol.32 (2), p.105-111
Main Authors: Cachia, David, Wani, Khalida, Penas-Prado, Marta, Olar, Adriana, McCutcheon, Ian E., Benjamin, Robert S., Armstrong, Terri S., Gilbert, Mark R., Aldape, Kenneth D.
Format: Article
Language:English
Subjects:
Adult
Antigens
Brain cancer
Cancer Research
Case Report
Chromosomes
Ependymoma - genetics
Ependymoma - pathology
Female
Gene Fusion
Humans
Magnetic Resonance Imaging
Medicine
Medicine & Public Health
Neoplasm Recurrence, Local - genetics
Neoplasm Recurrence, Local - pathology
Neoplasms, Multiple Primary - genetics
Neural Cell Adhesion Molecule L1
Neurology
Neurosurgery
NF-kappa B - genetics
Oncology
Pathology
Proteins
Proteins - genetics
Radiation
Recombinant Fusion Proteins - genetics
Sarcoma
Sarcoma - genetics
Sarcoma - pathology
Signal Transduction - genetics
Spinal cord
Supratentorial Neoplasms - genetics
Supratentorial Neoplasms - pathology
Transcription Factor RelA - genetics
Transcription, Genetic - genetics
Tumors
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Summary: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.
ISSN:1433-7398
1861-387X
DOI:10.1007/s10014-014-0205-1