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Case Reports in Medicine
Volume 2012 (2012), Article ID 418672, 4 pages
http://dx.doi.org/10.1155/2012/418672
Case Report

Novel BRAF Alteration in a Sporadic Pilocytic Astrocytoma

1Department of Pathology & Immunology, Washington University School of Medicine, St. Louis, MO 63110, USA
2Department of Neurology, Washington University School of Medicine, P.O. Box 8111, 660 South Euclid Avenue, St. Louis, MO 63110, USA
3Department of Neurosurgery, Washington University School of Medicine, St. Louis, MO 63110, USA

Received 17 December 2011; Accepted 7 February 2012

Academic Editor: Mark E. Shaffrey

Copyright © 2012 Sonika Dahiya et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Pilocytic astrocytoma (PA) is the most frequently encountered glial tumor (glioma or astrocytoma) in children. Recent studies have identified alterations in the BRAF serine/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 aberrant BRAF fusion transcripts. In this paper, we describe a novel KIAA1549:BRAF fusion transcript in a sporadic PA tumor associated with increased ERK activation and review the spectrum of BRAF genetic alterations in this common pediatric low-grade central nervous system neoplasm.