NovelBRAFAlteration in a Sporadic Pilocytic Astrocytoma

Abstract

Pilocytic astrocytoma (PA) is the most frequently encountered glial tumor (glioma or astrocytoma) in children. Recent studies have identified alterations in theBRAFserine/threonine kinase gene as the likely causative mutation in these childhood brain tumors. The majority of these genetic changes involve chromosome 7q34 tandem duplication, resulting in aberrantBRAFfusion transcripts. In this paper, we describe a novelKIAA1549:BRAFfusion transcript in a sporadic PA tumor associated with increased ERK activation and review the spectrum ofBRAFgenetic alterations in this common pediatric low-grade central nervous system neoplasm.