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Molecular characterization reveals NF1 deletions and FGFR1 ‐activating mutations in a pediatric spinal oligodendroglioma
Author(s) -
Bruzek Amy K.,
Zureick Andrew H.,
McKeever Paul E.,
Garton Hugh J. L.,
Robertson Patricia L.,
Mody Rajen,
Koschmann Carl J.
Publication year - 2017
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.26346
Subject(s) - oligodendroglioma , medicine , exome sequencing , germline mutation , exome , somatic cell , mutation , genetics , astrocytoma , gene , cancer research , glioma , biology
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 to explore potential personalized therapies for this patient and expose molecular drivers that may be involved in similar cases.