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小儿髓母细胞瘤中信号通路失调和分子改变。

Signaling pathway deregulation and molecular alterations across pediatric medulloblastomas.

机构信息

Laboratoire de Pathologie, CHU Hautepierre, 1, avenue Molière, 67098 Strasbourg, France.

EA3430, Progression tumorale et microenvironnement, approches translationnelles et épidémiologie, université de Strasbourg, 3, avenue Molière, 67000 Strasbourg, France.

出版信息

Neurochirurgie. 2021 Feb;67(1):39-45. doi: 10.1016/j.neuchi.2018.01.003.

Abstract

Medulloblastomas (MBs) account for 15% of brain tumors in children under the age of 15. To date, the overall 5-year survival rate for all children is only around 60%. Recent advances in cancer genomics have led to a fundamental change in medulloblastoma classification and is evolving along with the genomic discoveries, allowing to regularly reclassify this disease. The previous molecular classification defined 4 groups (WNT-activated MB, SHH-activated MB and the groups 3 and 4 characterized partially by NMYC and MYC driven MBs). This stratification moved forward recently to better define these groups and their correlation to outcome. This new stratification into 7 novel subgroups was helpful to lay foundations and complementary data on the understanding regarding molecular pathways and gene mutations underlying medulloblastoma biology. This review was aimed at answering the recent key questions on MB genomics and go further in the relevance of those genes in MB development as well as in their targeted therapies.

摘要

髓母细胞瘤(MBs)占 15 岁以下儿童脑肿瘤的 15%。迄今为止,所有儿童的整体 5 年生存率仅约为 60%。癌症基因组学的最新进展导致了髓母细胞瘤分类的根本改变,并随着基因组发现而不断发展,从而能够定期重新对这种疾病进行分类。以前的分子分类定义了 4 组(WNT 激活的 MB、SHH 激活的 MB 以及部分由 NMYC 和 MYC 驱动的 MB 特征的组 3 和组 4)。最近,这种分层方法向前推进,以更好地定义这些组及其与结果的相关性。这种新的 7 个新亚组的分类有助于为髓母细胞瘤生物学的分子途径和基因突变提供基础和补充数据。本综述旨在回答有关 MB 基因组学的最新关键问题,并深入研究这些基因在 MB 发育以及靶向治疗中的相关性。

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