Histone H3K27M Mutation Overrides Histological Grading in Pediatric Gliomas
Histone H3K27M Mutation Overrides Histological Grading in Pediatric Gliomas
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DOI：
10.1038/s41598-020-65272-x
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发表时间：
2020-05-20
影响因子：
4.6
通讯作者：
El-Naggar, Shahenda
中科院分区：
文献类型：
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作者：
Mosaab, Amal;El-Ayadi, Moatasem;El-Naggar, Shahenda
儿童高级别胶质瘤（HGG）是一种罕见的侵袭性肿瘤，对预后和治疗提出了挑战。弥漫性中线胶质瘤，H3K27M突变体是WHO最新分类中引入HGG的一个新实体。在这项研究中，我们评估了H3K27M突变在105个肿瘤样本中的存在，这些肿瘤样本在组织学上分为低级别胶质瘤（LGG）（n=45）和HGG（n=60）。对样本进行组蛋白H3.3和H3.1变体突变筛查，以检查其患病率、预后影响，并评估其在有限资源环境中的潜在临床价值。在105个样本中的28个（26.7%）中检测到H3K27M突变，并且其分布与中线位置显著相关（p值
Pediatric high-grade gliomas (HGG) are rare aggressive tumors that present a prognostic and therapeutic challenge. Diffuse midline glioma, H3K27M-mutant is a new entity introduced to HGG in the latest WHO classification. In this study we evaluated the presence of H3K27M mutation in 105 tumor samples histologically classified into low-grade gliomas (LGG) (n=45), and HGG (n=60). Samples were screened for the mutation in histone H3.3 and H3.1 variants to examine its prevalence, prognostic impact, and assess its potential clinical value in limited resource settings. H3K27M mutation was detected in 28 of 105 (26.7%) samples, and its distribution was significantly associated with midline locations (p-value