Molecular characterization reveals NF1 deletions and FGFR1-activating mutations in a pediatric spinal oligodendroglioma.
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ABSTRACT:
SUBMITTER: Bruzek AK
PROVIDER: S-EPMC5611838 | biostudies-literature | 2017 Jun
REPOSITORIES: biostudies-literature
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Molecular characterization reveals NF1 deletions and FGFR1-activating mutations in a pediatric spinal oligodendroglioma.
Bruzek Amy K AK Zureick Andrew H AH McKeever Paul E PE Garton Hugh J L HJL Robertson Patricia L PL Mody Rajen R Koschmann Carl J CJ
Pediatric blood & cancer 20161110 6
Pediatric spinal oligodendrogliomas are rare and aggressive tumors. They do not share the same molecular features of adult oligodendroglioma, and no previous reports have examined the molecular features of pediatric spinal oligodendroglioma. We present the case of a child with a recurrent spinal anaplastic oligodendroglioma. We performed whole exome (paired tumor and germline DNA) and transcriptome (tumor RNA) sequencing, which revealed somatic mutations in NF1 and FGFR1. These data allowed us t ...[more]
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