{"doi":"10.1002/jso.23822","title":"<i>BRAF V600E</i> mutations are frequent in dysembryoplastic neuroepithelial tumors and subependymal giant cell astrocytomas","abstract":"<jats:sec><jats:title>Background</jats:title><jats:p><jats:italic>BRAF</jats: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 <jats:italic>BRAF</jats:italic><jats:sup><jats:italic>V600E</jats:italic></jats:sup> in low‐grade glial tumors.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats: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 <jats:italic>BRAF</jats:italic><jats:sup><jats:italic>V600E</jats:italic></jats:sup> by direct sequencing.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>We found frequent <jats:italic>BRAF</jats:italic><jats:sup><jats:italic>V600E</jats:italic></jats:sup> in DNTs (26/51, 51%), SEGAs (6/14, 42.9%), and PXAs (14/28, 50%). In DNTs, <jats:italic>BRAF</jats:italic><jats:sup><jats:italic>V600E</jats:italic></jats:sup> was more commonly detected in tumors with extra‐temporal location (68.2% vs. 37.9%; <jats:italic>P</jats:italic> = 0.032). The diagnostic subgroups of tuberous sclerosis complex were not correlated with <jats:italic>BRAF</jats:italic><jats:sup><jats:italic>V600E</jats:italic></jats:sup> in patients with SEGA (<jats:italic>P</jats:italic> = 0.533). One PXA case revealed a unique duplication mutation (p.Thr599dup) of codon 599. All GMB‐N cases did not carry <jats:italic>BRAF</jats:italic> mutation.</jats:p></jats:sec><jats:sec><jats:title>Conclusions</jats:title><jats:p>Our data indicate that <jats:italic>BRAF</jats:italic><jats:sup><jats:italic>V600E</jats:italic></jats:sup> is a common genetic alteration in low‐grade glial tumors with neuronal component or differentiation. High frequency of <jats:italic>BRAF</jats:italic><jats:sup><jats:italic>V600E</jats:italic></jats:sup> in DNTs and SEGAs would be useful in the differential diagnosis, and also offers a potential specific treatment targeting <jats:italic>BRAF</jats:italic><jats:sup><jats:italic>V600E</jats:italic></jats:sup>. <jats:italic>J. Surg. Oncol. 2015 111:359–364</jats:italic>. © 2014 Wiley Periodicals, Inc.</jats:p></jats:sec>","journal":"Journal of Surgical Oncology","year":2015,"id":637839,"datarank":0.5983476069846413,"base_score":3.9889840465642745,"endowment":3.9889840465642745,"self_citation_contribution":0.5983476069846413,"citation_network_contribution":0.0,"self_endowment_contribution":0.5983476069846413,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":53,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":854413,"name":"Young Hye Cho","orcid":"0000-0003-2176-6227","position":1,"is_corresponding":false},{"id":1656363,"name":"So Young Kang","orcid":null,"position":2,"is_corresponding":false},{"id":261744,"name":"Nara Yoon","orcid":"0000-0001-8937-4196","position":3,"is_corresponding":false},{"id":256039,"name":"Chang Ohk Sung","orcid":"0000-0002-8567-456X","position":4,"is_corresponding":false},{"id":1656366,"name":"Yeon‐Lim Suh","orcid":null,"position":5,"is_corresponding":false},{"id":1643877,"name":"Dakeun Lee","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"<i>BRAF V600E</i> mutations are frequent in dysembryoplastic neuroepithelial tumors and subependymal giant cell astrocytomas","abstract":"<jats:sec><jats:title>Background</jats:title><jats:p><jats:italic>BRAF</jats: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 <jats:italic>BRAF</jats:italic><jats:sup><jats:italic>V600E</jats:italic></jats:sup> in low‐grade glial tumors.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats: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 <jats:italic>BRAF</jats:italic><jats:sup><jats:italic>V600E</jats:italic></jats:sup> by direct sequencing.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>We found frequent <jats:italic>BRAF</jats:italic><jats:sup><jats:italic>V600E</jats:italic></jats:sup> in DNTs (26/51, 51%), SEGAs (6/14, 42.9%), and PXAs (14/28, 50%). In DNTs, <jats:italic>BRAF</jats:italic><jats:sup><jats:italic>V600E</jats:italic></jats:sup> was more commonly detected in tumors with extra‐temporal location (68.2% vs. 37.9%; <jats:italic>P</jats:italic> = 0.032). The diagnostic subgroups of tuberous sclerosis complex were not correlated with <jats:italic>BRAF</jats:italic><jats:sup><jats:italic>V600E</jats:italic></jats:sup> in patients with SEGA (<jats:italic>P</jats:italic> = 0.533). One PXA case revealed a unique duplication mutation (p.Thr599dup) of codon 599. All GMB‐N cases did not carry <jats:italic>BRAF</jats:italic> mutation.</jats:p></jats:sec><jats:sec><jats:title>Conclusions</jats:title><jats:p>Our data indicate that <jats:italic>BRAF</jats:italic><jats:sup><jats:italic>V600E</jats:italic></jats:sup> is a common genetic alteration in low‐grade glial tumors with neuronal component or differentiation. High frequency of <jats:italic>BRAF</jats:italic><jats:sup><jats:italic>V600E</jats:italic></jats:sup> in DNTs and SEGAs would be useful in the differential diagnosis, and also offers a potential specific treatment targeting <jats:italic>BRAF</jats:italic><jats:sup><jats:italic>V600E</jats:italic></jats:sup>. <jats:italic>J. Surg. Oncol. 2015 111:359–364</jats:italic>. © 2014 Wiley Periodicals, Inc.</jats:p></jats:sec>","is_dataset_classified":null,"base_score":3.9889840465642745,"endowment":3.9889840465642745,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"25346165","pmcid":null,"openalex_id":"https://openalex.org/W1767293300","authors":[],"funders":[{"funder_name":"The new faculty research fund of Ajou University School of Medicine and Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Education","grant_id":"","title":null}],"total_grants":1,"fwci":3.7539,"citation_percentile":0.93647812,"influential_citations":6,"citation_trend":[{"year":2015,"count":4},{"year":2016,"count":14},{"year":2017,"count":5},{"year":2018,"count":3},{"year":2019,"count":7},{"year":2020,"count":5},{"year":2021,"count":4},{"year":2022,"count":6},{"year":2023,"count":1},{"year":2024,"count":1},{"year":2025,"count":1},{"year":2026,"count":2}],"oa_status":"closed","license":"http://onlinelibrary.wiley.com/termsAndConditions#vor","oa_locations":[{"url":"https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fjso.23822","host_type":"publisher"},{"url":"https://onlinelibrary.wiley.com/doi/pdf/10.1002/jso.23822","host_type":"publisher"},{"url":"https://doi.org/10.1002/jso.23822","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/25346165","host_type":"repository"},{"url":"http://hdl.handle.net/201003/13509","host_type":"repository"}],"fields_of_study":["Tuberous Sclerosis Complex Research","Glioma Diagnosis and Treatment","Epilepsy research and treatment","Medicine","Biology"],"mesh_terms":["Adolescent","Adult","Aged","Astrocytoma","Brain Neoplasms","Child","Child, Preschool","DNA, Neoplasm","Female","Follow-Up Studies","Humans","Infant","Male","Middle Aged","Mutation","Neoplasm Recurrence, Local","Prognosis","Teratoma","Polymerase Chain Reaction","Neoplasms, Neuroepithelial","Proto-Oncogene Proteins B-raf","Young Adult","Neoplasm Grading"],"keywords":["Subependymal giant cell astrocytoma","Tuberous sclerosis","V600E","Pleomorphic xanthoastrocytoma","Subependymal zone","Medicine","Cancer research","Mutation","Pathology","Astrocytoma","Biology","Glioma","Genetics","Gene","Braf","Dysembyoplastic Neuroepithelial Tumor","Glioblastoma With Neuronal Marker Expression"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-06T19:37:33.193971Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}