title: Molecular characterization reveals NF1 deletions and FGFR1-activating mutations in a pediatric spinal oligodendroglioma.
abstract: 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.
authors.affiliation: Department of Neurosurgery, University of Michigan Medical School, Ann Arbor, Michigan.
authors.forename: Amy K
authors.initials: AK
authors.lastname: Bruzek
authors.affiliation: Medical School, University of Michigan Medical School, Ann Arbor, Michigan.
authors.forename: Andrew H
authors.initials: AH
authors.lastname: Zureick
authors.affiliation: Department of Pathology, University of Michigan Medical School, Ann Arbor, Michigan.
authors.forename: Paul E
authors.initials: PE
authors.lastname: McKeever
authors.affiliation: Department of Neurosurgery, University of Michigan Medical School, Ann Arbor, Michigan.
authors.forename: Hugh J L
authors.initials: HJL
authors.lastname: Garton
authors.affiliation: Division of Pediatric Neurology, Department of Pediatrics, University of Michigan Medical School, Ann Arbor, Michigan.
authors.forename: Patricia L
authors.initials: PL
authors.lastname: Robertson
authors.affiliation: Division of Pediatric Hematology/Oncology, Department of Pediatrics, University of Michigan Medical School, Ann Arbor, Michigan.
authors.forename: Rajen
authors.initials: R
authors.lastname: Mody
authors.affiliation: Division of Pediatric Hematology/Oncology, Department of Pediatrics, University of Michigan Medical School, Ann Arbor, Michigan.
authors.forename: Carl J
authors.initials: CJ
authors.lastname: Koschmann
mesh_terms: D002675:Child, Preschool; D059472:Exome; D005260:Female; D017353:Gene Deletion; D006801:Humans; D009363:Neoplasm Proteins / Q000096:biosynthesis / Q000235:genetics; D025542:Neurofibromin 1 / Q000096:biosynthesis / Q000235:genetics; D009837:Oligodendroglioma / Q000000981:diagnostic imaging / Q000235:genetics / Q000378:metabolism; D051496:Receptor, Fibroblast Growth Factor, Type 1 / Q000096:biosynthesis / Q000235:genetics; D013125:Spinal Neoplasms / Q000000981:diagnostic imaging / Q000235:genetics / Q000378:metabolism; D059467:Transcriptome
chemical_list: D009363:Neoplasm Proteins; D025542:Neurofibromin 1; C496348:FGFR1 protein, human; D051496:Receptor, Fibroblast Growth Factor, Type 1
keywords: NF1; anaplastic oligodendroglioma; fibroblast growth factor receptor type 1; molecular sequence data; precision medicine; spinal cord neoplasms