Pediatric diffuse hemispheric glioma H3 G34-mutant with gains of the BRAF locus: An illustrative case.

IF 0.9 Q4 ONCOLOGY Rare Tumors Pub Date : 2023-01-01 DOI:10.1177/20363613231168704
Christine Marlow, Joshua A Cuoco, Austin R Hoggarth, Michael S Stump, Lisa S Apfel, Cara M Rogers
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引用次数: 1

Abstract

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.

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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。
弥漫性半球胶质瘤,H3 g34突变体,是最近发现的一种预后较差的高级别胶质瘤。除了h3g34错义突变外,在这些恶性肿瘤中还发现了许多遗传事件,包括ATRX、TP53和BRAF基因。迄今为止,只有少数报道在弥漫性半球胶质瘤中发现了BRAF突变,即H3 g34突变体。此外,据我们所知,BRAF基因座的增益尚未被描述。在这里,我们报告了一例11岁男性弥漫性半球胶质瘤,H3 g34突变体,发现BRAF位点有新的增益。此外,我们强调了弥漫性半球胶质瘤、H3 g34突变体和异常BRAF信号通路的当前遗传格局。
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来源期刊
Rare Tumors
Rare Tumors ONCOLOGY-
CiteScore
1.50
自引率
0.00%
发文量
15
审稿时长
15 weeks
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