文章：

罕见儿童小脑高级别胶质瘤在组织学和转录组学上模拟髓母细胞瘤并显示p53突变

Rare Pediatric Cerebellar High-Grade Gliomas Mimic Medulloblastomas Histologically and Transcriptomically and Show p53 Mutations

原文发布日期：4 January 2024

DOI: 10.3390/cancers16010232

类型: Article

开放获取: 是

英文摘要：

Pediatric high-grade gliomas (HGG) of the cerebellum are rare, and only a few cases have been documented in detail in the literature. A major differential diagnosis for poorly differentiated tumors in the cerebellum in children is medulloblastoma. In this study, we described the histological and molecular features of a series of five pediatric high-grade gliomas of the cerebellum. They actually showed histological and immunohistochemical features that overlapped with those of medulloblastomas and achieved high scores in NanoString-based medulloblastoma diagnostic assay. Methylation profiling demonstrated these tumors were heterogeneous epigenetically, clustering to GBM_MID, DMG_K27, and GBM_RTKIII methylation classes. MYCN amplification was present in one case, and PDGFRA amplification in another two cases. Interestingly, target sequencing showed that all tumors carried TP53 mutations. Our results highlight that pediatric high-grade gliomas of the cerebellum can mimic medulloblastomas at histological and transcriptomic levels. Our report adds to the rare number of cases in the literature of cerebellar HGGs in children. We recommend the use of both methylation array and TP53 screening in the differential diagnoses of poorly differentiated embryonal-like tumors of the cerebellum.

摘要翻译： 

小脑高级别胶质瘤在儿童中较为罕见，文献中仅有少数病例被详细记录。对于儿童小脑低分化肿瘤，一个主要的鉴别诊断是髓母细胞瘤。本研究描述了一系列五例儿童小脑高级别胶质瘤的组织学和分子特征。这些肿瘤实际上显示出与髓母细胞瘤重叠的组织学和免疫组化特征，并在基于NanoString的髓母细胞瘤诊断检测中获得高分。甲基化谱分析显示这些肿瘤在表观遗传学上具有异质性，分别聚类到GBM_MID、DMG_K27和GBM_RTKIII甲基化类别。其中一例存在MYCN扩增，另外两例存在PDGFRA扩增。有趣的是，靶向测序显示所有肿瘤均携带TP53突变。我们的研究结果强调，儿童小脑高级别胶质瘤在组织学和转录组水平上可模拟髓母细胞瘤。本报告增加了文献中儿童小脑高级别胶质瘤的罕见病例数量。我们建议在小脑低分化胚胎样肿瘤的鉴别诊断中同时使用甲基化芯片和TP53筛查。

原文链接：

Rare Pediatric Cerebellar High-Grade Gliomas Mimic Medulloblastomas Histologically and Transcriptomically and Show p53 Mutations