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BRAF V600E mutations are frequent in dysembryoplastic neuroepithelial tumors and subependymal giant cell astrocytomas
Author(s) -
Lee Dakeun,
Cho Young Hye,
Kang So Young,
Yoon Nara,
Sung Chang Ohk,
Suh YeonLim
Publication year - 2015
Publication title -
journal of surgical oncology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.201
H-Index - 111
eISSN - 1096-9098
pISSN - 0022-4790
DOI - 10.1002/jso.23822
Subject(s) - subependymal giant cell astrocytoma , tuberous sclerosis , v600e , pleomorphic xanthoastrocytoma , subependymal zone , medicine , cancer research , mutation , pathology , astrocytoma , biology , glioma , genetics , gene
Background BRAF mutation has received a great deal of attention in neuro‐oncology field, recently. This study aimed to investigate the incidence and the clinical significance of BRAF V600E in low‐grade glial tumors. Methods An institutional cohort of 105 brain tumors (51 dysembryoplastic neuroepithelial tumors (DNTs), 14 subependymal giant cell astrocytomas (SEGAs), 12 glioblastoma with neuronal marker expression (GBM‐N), and 28 pleomorphic xanthoastrocytomas (PXAs)) from 100 patients were investigated for the presence of BRAF V600E by direct sequencing. Results We found frequent BRAF V600E in DNTs (26/51, 51%), SEGAs (6/14, 42.9%), and PXAs (14/28, 50%). In DNTs, BRAF V600E was more commonly detected in tumors with extra‐temporal location (68.2% vs. 37.9%; P = 0.032). The diagnostic subgroups of tuberous sclerosis complex were not correlated with BRAF V600E in patients with SEGA ( P = 0.533). One PXA case revealed a unique duplication mutation (p.Thr599dup) of codon 599. All GMB‐N cases did not carry BRAF mutation. Conclusions Our data indicate that BRAF V600E is a common genetic alteration in low‐grade glial tumors with neuronal component or differentiation. High frequency of BRAF V600E in DNTs and SEGAs would be useful in the differential diagnosis, and also offers a potential specific treatment targeting BRAF V600E . J. Surg. Oncol. 2015 111:359–364 . © 2014 Wiley Periodicals, Inc.