伴有BRAF基因座增益的儿科弥漫性半球胶质瘤H3 G34突变型：一个实例
Pediatric diffuse hemispheric glioma H3 G34-mutant with gains of the BRAF locus: An illustrative case.
作者信息
Marlow Christine, Cuoco Joshua A, Hoggarth Austin R, Stump Michael S, Apfel Lisa S, Rogers Cara M
机构信息
Virginia Tech Carilion School of Medicine, Roanoke, VA, USA.
Section of Neurosurgery, Carilion Clinic, Roanoke, VA, USA.
出版信息
Rare Tumors. 2023 Apr 7;15:20363613231168704. doi: 10.1177/20363613231168704. eCollection 2023.
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 , , and, rarely, genes. There are only a few reports to date that have identified mutations in diffuse hemispheric glioma, H3 G34-mutant. Moreover, to our knowledge, gains of the 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 locus. Furthermore, we emphasize the current genetic landscape of diffuse hemispheric glioma, H3 G34-mutant, and implications of an aberrant BRAF signaling pathway.
弥漫性半球胶质瘤，H3 G34突变型，是一种最近才被认识到的独特的高级别胶质瘤，预后很差。除了H3 G34错义突变外，在这些恶性肿瘤中还发现了许多基因事件，包括 、 ，以及很少见的 基因。迄今为止，仅有少数报告在弥漫性半球胶质瘤H3 G34突变型中鉴定出 突变。此外，据我们所知， 位点的扩增尚未见报道。在此，我们报告一例11岁男性弥漫性半球胶质瘤H3 G34突变型病例，发现其具有 位点的新扩增。此外，我们强调了弥漫性半球胶质瘤H3 G34突变型的当前基因格局，以及异常BRAF信号通路的影响。
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