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.
Highlights
Brain tumors are the most common solid malignancy of childhood [1,2]
Second opinions on the pathologic diagnosis with additional immunohistochemical staining revealed that all of the tumor cells were positive for glial fibrillary acidic protein (GFAP)
In pediatric diffuse astrocytomas (WHO Grades 2 to 4, including glioblastoma multiforme (GBM)), there is a lower frequency of the genetic alterations most commonly observed in adult cases [15]
Summary
Radiation therapy and chemotherapy are critical parts of the initial treatment strategy for high-grade, pediatric brain tumors [3,4]. Molecular characterization of the tumor demonstrated a well-described BRAF V600E point mutation and loss of CDKN2A/B. Both mutations have been reported in high-grade pediatric gliomas [6,10,11]. This case illustrates the utility of molecular analysis in both the diagnosis and identification of potential treatment options in pediatric cancers
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