Pathology Unit, Meyer Children's Hospital, 50139 Florence, Italy.
Neuro-Oncology Unit, Department of Pediatric Oncology, Meyer Children's Hospital, 50139 Florence, Italy.
Genes (Basel). 2022 Mar 31;13(4):624. doi: 10.3390/genes13040624.
Pediatric high-grade gliomas (pHGGs) encompass a heterogeneous group of tumors. Three main molecular types (H3.3 mutant, IDH mutant, and H3.3/IDH wild-type) and a number of subtypes have been identified. We provide an overview of pHGGs and present a mono-institutional series. We studied eleven non-related pHGG samples through a combined approach of routine diagnostic tools and a gene panel. TP53 and H3F3A were the most mutated genes (six patients each, 54%). The third most mutated gene was EGFR (three patients, 27%), followed by PDGFRA and PTEN (two patients each, 18%). Variants in the EZHIP, MSH2, IDH1, IDH2, TERT, HRAS, NF1, BRAF, ATRX, and PIK3CA genes were relatively infrequent (one patient each, 9%). In one case, gene panel analysis documented the presence of a pathogenic IDH2 variant (c.419G>A, p.Arg140Gln) never described in gliomas. More than one-third of patients carry a variant in a gene associated with tumor-predisposing syndromes. The absence of constitutional DNA did not allow us to identify their constitutional origin.
小儿高级别胶质瘤（pHGG）包含一组异质性肿瘤。已经确定了三种主要的分子类型（H3.3 突变型、IDH 突变型和 H3.3/IDH 野生型）和一些亚型。我们提供了 pHGG 的概述，并展示了一个单机构系列。我们通过常规诊断工具和基因面板的联合方法研究了 11 个非相关 pHGG 样本。TP53 和 H3F3A 是突变最多的基因（各有 6 例，占 54%）。第三个突变最多的基因是 EGFR（3 例，占 27%），其次是 PDGFRA 和 PTEN（各 2 例，占 18%）。EZHIP、MSH2、IDH1、IDH2、TERT、HRAS、NF1、BRAF、ATRX 和 PIK3CA 基因的变异相对较少（各有 1 例，占 9%）。在一个病例中，基因面板分析记录了一种从未在胶质瘤中描述过的致病性 IDH2 变异（c.419G>A，p.Arg140Gln）的存在。超过三分之一的患者携带与肿瘤易患综合征相关的基因变异。由于缺乏细胞遗传学 DNA，我们无法确定其细胞遗传学起源。
