Genomic Landscape of Intramedullary Spinal Cord Gliomas.
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ABSTRACT:
SUBMITTER: Zhang M
PROVIDER: S-EPMC6904446 | biostudies-literature | 2019 Dec
REPOSITORIES: biostudies-literature
Publications
Genomic Landscape of Intramedullary Spinal Cord Gliomas.
Zhang Ming M Iyer Rajiv R RR Azad Tej D TD Wang Qing Q Garzon-Muvdi Tomas T Wang Joanna J Liu Ann A Burger Peter P Eberhart Charles C Rodriguez Fausto J FJ Sciubba Daniel M DM Wolinsky Jean-Paul JP Gokaslan Ziya Z Groves Mari L ML Jallo George I GI Bettegowda Chetan C
Scientific reports 20191210 1
Intramedullary spinal cord tumors (IMSCTs) are rare neoplasms that have limited treatment options and are associated with high rates of morbidity and mortality. To better understand the genetic basis of these tumors we performed whole exome sequencing on 45 tumors and matched germline DNA, including twenty-nine spinal cord ependymomas and sixteen astrocytomas. Though recurrent somatic mutations in IMSCTs were rare, we identified NF2 mutations in 15.7% of tumors (ependymoma, N = 7; astrocytoma, N ...[more]
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