High levelMYCNamplification and distinct methylation signature define an aggressive subtype of spinal cord ependymoma

Mark Raffeld; Zied Abdullaev; Svetlana D. Pack; Liqiang Xi; Sushma Nagaraj; Nicole Briceno; Elizabeth Vera; Stefania Pittaluga; Osorio Lopes Abath Neto; Martha Quezado; Kenneth Aldape; Terri S. Armstrong; Mark R. Gilbert

doi:10.1186/s40478-020-00973-y

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High levelMYCNamplification and distinct methylation signature define an aggressive subtype of spinal cord ependymoma

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High levelMYCNamplification and distinct methylation signature define an aggressive subtype of spinal cord ependymoma

Mark Raffeld, Zied Abdullaev, Svetlana D. Pack, Liqiang Xi, Sushma Nagaraj, Nicole Briceno, Elizabeth Vera, Stefania Pittaluga, Osorio Lopes Abath Neto, Martha Quezado, …

Acta neuropathologica communications, Vol.8(1), 101

07/08/2020

DOI: 10.1186/s40478-020-00973-y

PMCID: PMC7346356

PMID: 32641156

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Abstract

We report a novel group of clinically aggressive spinal cord ependymomas characterized by Grade III histology,MYCNamplification, an absence ofNF2alterations or other recurrent pathogenic mutations, and a unique methylation classifier profile. Seven cases were found to haveMYCNamplification in the course of routine mutational profiling of 552 patients with central nervous system tumors between December 2016 and July of 2019 and an eighth patient was identified from an unrelated set of cases. Methylation array analysis revealed that none of the 8 cases clustered with any of the nine previously described ependymoma methylation subgroups, and 7 of 8 formed their own tight unique cluster. Histologically all cases showed grade III features, and all demonstrated aggressive clinical behavior. These findings are presented in the context of data from three other studies describing similar cases. Therefore, a combined total of 27MYCNamplified spinal cord ependymoma cases have now been reported in the literature, warranting their consideration as a distinctive subtype of spinal cord ependymoma (SP-EPN-MYCN) with their unique molecular characteristics and aggressive clinical behavior.

Life Sciences & Biomedicine

Neurosciences

Neurosciences & Neurology

Science & Technology

Details

Title: Subtitle: High levelMYCNamplification and distinct methylation signature define an aggressive subtype of spinal cord ependymoma
Creators: Mark Raffeld - National Institutes of Health
Zied Abdullaev - National Institutes of Health
Svetlana D. Pack - National Institutes of Health
Liqiang Xi - National Institutes of Health
Sushma Nagaraj - National Institutes of Health
Nicole Briceno - National Institutes of Health
Elizabeth Vera - National Institutes of Health
Stefania Pittaluga - National Institutes of Health
Osorio Lopes Abath Neto - NCI, Pathol Lab, NIH, Bldg 10, Bethesda, MD 20892 USA
Martha Quezado - National Institutes of Health
Kenneth Aldape - National Institutes of Health
Terri S. Armstrong - National Institutes of Health
Mark R. Gilbert - National Institutes of Health
Resource Type: Journal article
Publication Details: Acta neuropathologica communications, Vol.8(1), 101
DOI: 10.1186/s40478-020-00973-y
PMID: 32641156
PMCID: PMC7346356
NLM abbreviation: Acta Neuropathol Commun
ISSN: 2051-5960
eISSN: 2051-5960
Publisher: Springer Nature
Number of pages: 11
Grant note: Intramural Research Program (IRP) of the National Institutes of Health (NIH), Center for Cancer Research (CCR), National Cancer Institute (NCI) NCI-CONNECT grant NIH, CCR, NCI funds
Language: English
Date published: 07/08/2020
Academic Unit: Pathology
Record Identifier: 9984276453002771

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