髓母细胞瘤：WHO 2021 年及以后。
Medulloblastoma: WHO 2021 and Beyond.
机构信息
Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Keck School of Medicine of University of Southern California, Los Angeles, CA, USA.
Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada.
出版信息
Pediatr Dev Pathol. 2022 Jan-Feb;25(1):23-33. doi: 10.1177/10935266211018931.
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 wildtype, SHH-activated -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.
2016 年，对髓母细胞瘤的分类进行了重构，以便纳入关于髓母细胞瘤生物学、基因组学和临床行为的最新数据。髓母细胞瘤首次根据分子特征（“基因定义”类别）和组织学特征（“组织学定义”类别）进行分类。目前的基因定义类别包括 WNT 激活型、SHH 激活型野生型、SHH 激活型-突变型和非 WNT/非 SHH 型。本文回顾了髓母细胞瘤分类的最新更新，提供了针对这些肿瘤的免疫组织化学和分子检测的实用方法，并展示了如何利用关键分子遗传学发现进行综合诊断。
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