Christine Marlow, Joshua A Cuoco, Austin R Hoggarth, Michael S Stump, Lisa S Apfel, Cara M Rogers
{"title":"儿童弥漫性半球胶质瘤H3 g34突变体与BRAF基因座的增益:一个说明性病例。","authors":"Christine Marlow, Joshua A Cuoco, Austin R Hoggarth, Michael S Stump, Lisa S Apfel, Cara M Rogers","doi":"10.1177/20363613231168704","DOIUrl":null,"url":null,"abstract":"<p><p>Diffuse hemispheric glioma, H3 G34-mutant, is a recently recognized distinct high-grade glioma with a dismal prognosis. In addition to the H3 G34 missense mutation, numerous genetic events have been identified in these malignant tumors, including <i>ATRX</i>, <i>TP53</i>, and, rarely, <i>BRAF</i> genes. There are only a few reports to date that have identified <i>BRAF</i> mutations in diffuse hemispheric glioma, H3 G34-mutant. Moreover, to our knowledge, gains of the <i>BRAF</i> locus have yet to be described. Here, we present a case of an 11-year-old male with a diffuse hemispheric glioma, H3 G34-mutant, found to have novel gains of the <i>BRAF</i> locus. Furthermore, we emphasize the current genetic landscape of diffuse hemispheric glioma, H3 G34-mutant, and implications of an aberrant BRAF signaling pathway.</p>","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":null,"pages":null},"PeriodicalIF":0.9000,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/d4/b1/10.1177_20363613231168704.PMC10088409.pdf","citationCount":"1","resultStr":"{\"title\":\"Pediatric diffuse hemispheric glioma H3 G34-mutant with gains of the BRAF locus: An illustrative case.\",\"authors\":\"Christine Marlow, Joshua A Cuoco, Austin R Hoggarth, Michael S Stump, Lisa S Apfel, Cara M Rogers\",\"doi\":\"10.1177/20363613231168704\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Diffuse hemispheric glioma, H3 G34-mutant, is a recently recognized distinct high-grade glioma with a dismal prognosis. In addition to the H3 G34 missense mutation, numerous genetic events have been identified in these malignant tumors, including <i>ATRX</i>, <i>TP53</i>, and, rarely, <i>BRAF</i> genes. There are only a few reports to date that have identified <i>BRAF</i> mutations in diffuse hemispheric glioma, H3 G34-mutant. Moreover, to our knowledge, gains of the <i>BRAF</i> locus have yet to be described. Here, we present a case of an 11-year-old male with a diffuse hemispheric glioma, H3 G34-mutant, found to have novel gains of the <i>BRAF</i> locus. Furthermore, we emphasize the current genetic landscape of diffuse hemispheric glioma, H3 G34-mutant, and implications of an aberrant BRAF signaling pathway.</p>\",\"PeriodicalId\":46078,\"journal\":{\"name\":\"Rare Tumors\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.9000,\"publicationDate\":\"2023-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/d4/b1/10.1177_20363613231168704.PMC10088409.pdf\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Rare Tumors\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1177/20363613231168704\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"ONCOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Rare Tumors","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1177/20363613231168704","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"ONCOLOGY","Score":null,"Total":0}
Pediatric diffuse hemispheric glioma H3 G34-mutant with gains of the BRAF locus: An illustrative case.
Diffuse hemispheric glioma, H3 G34-mutant, is a recently recognized distinct high-grade glioma with a dismal prognosis. In addition to the H3 G34 missense mutation, numerous genetic events have been identified in these malignant tumors, including ATRX, TP53, and, rarely, BRAF genes. There are only a few reports to date that have identified BRAF mutations in diffuse hemispheric glioma, H3 G34-mutant. Moreover, to our knowledge, gains of the BRAF locus have yet to be described. Here, we present a case of an 11-year-old male with a diffuse hemispheric glioma, H3 G34-mutant, found to have novel gains of the BRAF locus. Furthermore, we emphasize the current genetic landscape of diffuse hemispheric glioma, H3 G34-mutant, and implications of an aberrant BRAF signaling pathway.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
