髓母细胞瘤
Wnt信号通路
免疫组织化学
生物
计算生物学
突变体
基因组学
癌症研究
生物信息学
病理
医学
遗传学
基因
基因组
作者
Jennifer A. Cotter,Cynthia Hawkins
标识
DOI:10.1177/10935266211018931
摘要
In 2016, medulloblastoma classification was restructured to allow for incorporation of updated data about medulloblastoma biology, genomics, and clinical behavior. For the first time, medulloblastomas were classified according to molecular characteristics (“genetically defined” categories) as well as histologic characteristics (“histologically defined” categories). Current genetically-defined categories include WNT-activated, SHH-activated TP53 wildtype, SHH-activated TP53-mutant, and non-WNT/non-SHH. In this article, we review the most recent update to the classification of medulloblastomas, provide a practical approach to immunohistochemical and molecular testing for these tumors, and demonstrate how to use key molecular genetic findings to develop an integrated diagnosis.
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