Open AccessNext-generation sequencing reveals novel mutations in a collision tumor of glioblastoma and meningioma
Author(s) -
Kelly D. Chamberlin,
G. Parker Chamberlin,
Katherine Saunders,
Simon Khagi
Publication year - 2021
Publication title -
cns oncology
Language(s) - English
Resource type - Journals
eISSN - 2045-0915
pISSN - 2045-0907
DOI - 10.2217/cns-2020-0029
Subject(s) - cdkn2a , medicine , meningioma , pdgfra , glioblastoma , brain tumor , pathology , missense mutation , corpus callosum , cancer research , oncology , mutation , gene , biology , cancer , genetics , gist , stromal cell
Primary intracranial collision tumors are rare in patients without predisposing factors. We report such a case in a 42-year-old female who presented with headaches and altered mental status. Imaging revealed a single heterogeneous, rim-enhancing lesion in the left parieto-occipital periventricular region, involving the corpus callosum. Stereotactic biopsy demonstrated glioblastoma. Subsequent tumor resection showed histologic evidence of glioblastoma and meningioma. Next-generation sequencing was performed on both tumor components. The glioblastoma exhibited a CDKN2A homozygous deletion and novel missense mutations in TAF1L and CSMD3, while no definitive genetic alterations were identified in the meningioma. Next-generation sequencing may yield insight into molecular drivers of intracranial collision tumors and aid in identifying future therapeutic targets.