Next-generation sequencing reveals novel mutations in a collision tumor of glioblastoma and meningioma.
Kelly ChamberlinGregory ChamberlinKatherine SaundersSimon KhagiPublished in: CNS oncology (2021)
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.
Keyphrases
- optic nerve
- copy number
- end stage renal disease
- chronic kidney disease
- newly diagnosed
- circulating tumor
- high resolution
- ejection fraction
- mental health
- genome wide
- prognostic factors
- gene expression
- peritoneal dialysis
- single cell
- squamous cell carcinoma
- intellectual disability
- small cell lung cancer
- optical coherence tomography
- radiation therapy
- current status