Abstract
Classification of pediatric brain tumors with unusual histologic and clinical features may be a diagnostic challenge to the pathologist. We present a case of a 12-year-old girl with a primary intracranial tumor. The tumor classification was not certain initially, and the site of origin and clinical behavior were unusual. Genomic characterization of the tumor using a Clinical Laboratory Improvement Amendment (CLIA)-certified next-generation sequencing assay assisted in the diagnosis and translated into patient benefit, albeit transient. Our case argues that next generation sequencing may play a role in the pathological classification of pediatric brain cancers and guiding targeted therapy, supporting additional studies of genetically targeted therapeutics.
Original language | English |
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Pages (from-to) | 402-411 |
Number of pages | 10 |
Journal | Journal of Personalized Medicine |
Volume | 4 |
Issue number | 3 |
DOIs | |
State | Published - Sep 2014 |
Keywords
- BRAF V600E
- CKDN2A
- Gene mutation
- Glioblastoma
- Metastatic glioma
- Next generation sequencing
- Pediatric glioma
- Vemurafenib
ASJC Scopus subject areas
- Medicine (miscellaneous)