BRAF V600E mutations are frequent in dysembryoplastic neuroepithelial tumors and subependymal giant cell astrocytomas. Issue 3 (24th October 2014)

• Record Type: Journal Article
• Authors: Lee, Dakeun; Cho, Young Hye; Kang, So Young; Yoon, Nara; Sung, Chang Ohk; Suh, Yeon‐Lim
• Is Part Of: Journal of surgical oncology. Volume 111:Issue 3(2015:Mar. 01)
• Page Start: 359
• Page End: 364
• Publication Date: 2014-10-24
• Subjects: Cancer -- Surgery -- Periodicals; Neoplasms -- Periodicals; 616
• DOI: 10.1002/jso.23822
• Languages: English
• ISSNs: 0022-4790

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="jso23822-sec-0001" sec-type="section"> <title>Background</title> <p> <italic>BRAF</italic> 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 <italic>BRAF</italic><sup><italic>V600E</italic></sup> in low‐grade glial tumors.</p> </sec> <sec id="jso23822-sec-0002" sec-type="section"> <title>Methods</title> <p>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 <italic>BRAF</italic><sup><italic>V600E</italic></sup> by direct sequencing.</p> </sec> <sec id="jso23822-sec-0003" sec-type="section"> <title>Results</title> <p>We found frequent <italic>BRAF</italic><sup><italic>V600E</italic></sup> in DNTs (26/51, 51%), SEGAs (6/14, 42.9%), and PXAs (14/28, 50%). In DNTs, <italic>BRAF</italic><sup><italic>V600E</italic></sup> was more commonly detected in tumors with extra‐temporal location (68.2% vs. 37.9%; <italic>P</italic> = 0.032). The diagnostic subgroups of tuberous sclerosis complex were not correlated with <italic>BRAF</italic><sup><italic>V600E</italic></sup> in patients with SEGA (<italic>P</italic> = 0.533). One PXA case revealed a unique duplication mutation (p.Thr599dup) of codon 599. All GMB‐N cases did not carry <italic>BRAF</italic> mutation.</p> </sec> <sec id="jso23822-sec-0004" sec-type="section"> <title>Conclusions</title> <p>Our data indicate that <italic>BRAF</italic><sup><italic>V600E</italic></sup> is a common genetic alteration in low‐grade glial tumors with neuronal component or differentiation. High frequency of <italic>BRAF</italic><sup><italic>V600E</italic></sup> in DNTs and SEGAs would be useful in the differential diagnosis, and also offers a potential specific treatment targeting <italic>BRAF</italic><sup><italic>V600E</italic></sup>. <italic>J. Surg. Oncol. 2015 111:359–364</italic>. © 2014 Wiley Periodicals, Inc.</p> </sec> </abstract>