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) .
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) .
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Authors: Anika Bongaarts; Krinio Giannikou; Roy J Reinten; Jasper J Anink; James D Mills; Floor E Jansen; G M Wim Spliet; Willfred F A den Dunnen; Roland Coras; Ingmar Blümcke; Werner Paulus; Theresa Scholl; Martha Feucht; Katarzyna Kotulska; Sergiusz Jozwiak; Anna Maria Buccoliero; Chiara Caporalini; Flavio Giordano; Lorenzo Genitori; Figen Söylemezoğlu; José Pimentel; Mark Nellist; Antoinette Y N Schouten-van Meeteren; Anwesha Nag; Angelika Mühlebner; David J Kwiatkowski; Eleonora Aronica Journal: Oncotarget Date: 2017-09-08
Authors: Krinio Giannikou; Zachary Zhu; Jaegil Kim; Kellen D Winden; Magdalena E Tyburczy; David Marron; Joel S Parker; Zachary Hebert; Anika Bongaarts; Len Taing; Henry W Long; William V Pisano; Sanda Alexandrescu; Brianna Godlewski; Mark Nellist; Katarzyna Kotulska; Sergiusz Jozwiak; Marcin Roszkowski; Marek Mandera; Elizabeth A Thiele; Hart Lidov; Gad Getz; Orrin Devinsky; Michael S Lawrence; Keith L Ligon; David W Ellison; Mustafa Sahin; Eleonora Aronica; David M Meredith; David J Kwiatkowski Journal: Mod Pathol Date: 2020-10-13 Impact factor: 8.209
Authors: Thomas J Stone; Angus Keeley; Alex Virasami; William Harkness; Martin Tisdall; Elisa Izquierdo Delgado; Alice Gutteridge; Tony Brooks; Mark Kristiansen; Jane Chalker; Lisa Wilkhu; William Mifsud; John Apps; Maria Thom; Mike Hubank; Tim Forshew; J Helen Cross; Darren Hargrave; Jonathan Ham; Thomas S Jacques Journal: Acta Neuropathol Date: 2017-10-20 Impact factor: 17.088