RGD Reference Report - BRAF V600E mutations are frequent in dysembryoplastic neuroepithelial tumors and subependymal giant cell astrocytomas. - Rat Genome Database

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BRAF V600E mutations are frequent in dysembryoplastic neuroepithelial tumors and subependymal giant cell astrocytomas.

Authors: Lee, D  Cho, YH  Kang, SY  Yoon, N  Sung, CO  Suh, YL 
Citation: Lee D, etal., J Surg Oncol. 2015 Mar;111(3):359-64. doi: 10.1002/jso.23822. Epub 2014 Oct 24.
RGD ID: 11567238
Pubmed: PMID:25346165   (View Abstract at PubMed)
DOI: DOI:10.1002/jso.23822   (Journal Full-text)

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) .

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
dysembryoplastic neuroepithelial tumor  IAGP 11567238DNA:mutation:cds:p.V600E(human)RGD 
dysembryoplastic neuroepithelial tumor  ISOBRAF (Homo sapiens)11567238; 11567238DNA:mutation:cds:p.V600E(human)RGD 
malignant astrocytoma onsetIAGP 11567238DNA:mutation:cds:p.V600E(human)RGD 
malignant astrocytoma onsetISOBRAF (Homo sapiens)11567238; 11567238DNA:mutation:cds:p.V600E(human)RGD 
pleomorphic xanthoastrocytoma onsetIAGP 11567238DNA:mutation:cds:p.V600E(human)RGD 
pleomorphic xanthoastrocytoma onsetISOBRAF (Homo sapiens)11567238; 11567238DNA:mutation:cds:p.V600E(human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Braf  (B-Raf proto-oncogene, serine/threonine kinase)

Genes (Mus musculus)
Braf  (Braf transforming gene)

Genes (Homo sapiens)
BRAF  (B-Raf proto-oncogene, serine/threonine kinase)


Additional Information