BRAF Fusion Analysis in Pilocytic Astrocytomas: KIAA1549-BRAF 15-9 Fusions Are More Frequent in the Midline Than Within the Cerebellum.
Faulkner, Claire PhD; Ellis, Hayley Patricia BSc; Shaw, Abigail BSc; Penman, Catherine BSc; Palmer, Abigail BSc; Wragg, Christopher BSc, FRCPath; Greenslade, Mark BSc, FRCPath; Haynes, Harry Russell BSc, MBChB; Williams, Hannah BSc; Lowis, Stephen BA, BM, BCh, PhD, FRCPCH; White, Paul PhD; Williams, Maggie BSc, FRCPath; Capper, David MD; Kurian, Kathreena Mary BSc, MD, MBBS, FRCPath(Neuro)
Journal of Neuropathology & Experimental Neurology.
74(9):867-872, September 2015.
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Pilocytic astrocytomas (PAs) are increasingly tested for KIAA1549-BRAF fusions. We used reverse transcription polymerase chain reaction for the 3 most common KIAA1549-BRAF fusions, together with BRAF V600E and histone H3.3 K27M analyses to identify relationships of these molecular characteristics with clinical features in a cohort of 32 PA patients. In this group, the overall BRAF fusion detection rate was 24 (75%). Ten (42%) of the 24 had the 16-9 fusion, 8 (33%) had only the 15-9 fusion, and 1 (4%) of the patients had only the 16-11 fusion. In the PAs with only the 15-9 fusion, 1 PA was in the cerebellum and 7 were centered in the midline outside of the cerebellum, that is, in the hypothalamus (n = 4), optic pathways (n = 2), and brainstem (n = 1). Tumors within the cerebellum were negatively associated with fusion 15-9. Seven (22%) of the 32 patients had tumor-related deaths and 25 of the patients (78%) were alive between 2 and 14 years after initial biopsy. Age, sex, tumor location, 16-9 fusion, and 15-9 fusion were not associated with overall survival. Thus, in this small cohort, 15-9 KIAA1549-BRAF fusion was associated with midline PAs located outside of the cerebellum; these tumors, which are generally difficult to resect, are prone to recurrence.
(C) 2015 by American Association of Neuropathologists, Inc.