Cassia Guilherme de Souza E, Alves César Augusto Pinheiro Ferreira, Taranath Ajay, López Nicolás Sgarbi, Oztekin Ozgur, Gonçalves Fabrício Guimarães, Patay Zoltan
Neuroradiology Department - iVoxel - Hospital Santa Helena/Hospital Daher, Brasília, DF, Brazil.
Neuroradiology Section, Hospital das Clínicas- HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, Brazil.
Top Magn Reson Imaging. 2018 Dec;27(6):479-502. doi: 10.1097/RMR.0000000000000184.
Medulloblastoma is the most common malignant solid tumor in childhood and the most common embryonal neuroepithelial tumor of the central nervous system. Several morphological variants are recognized: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity. Recent advances in transcriptome and methylome profiling of these tumors led to a molecular classification that includes 4 major genetically defined groups. Accordingly, the 2016 revision of the World Health Organization's Classification of Tumors of the Central Nervous System recognizes the following medulloblastoma entities: Wingless (WNT)-activated, Sonic hedgehog (SHH)-activated, Group 3, and Group 4. This transcriptionally driven classification constitutes the basis of new risk stratification schemes applied to current therapeutic clinical trials. Because additional layers of molecular tumor heterogeneities are being progressively unveiled, several clinically relevant subgroups within the 4 major groups have already been identified. The purpose of this article is to review the recent basic science and clinical advances in the understanding of "medulloblastomas," and their diagnostic imaging correlates and the implications of those on current neuroimaging practice.
髓母细胞瘤是儿童期最常见的恶性实体瘤，也是中枢神经系统最常见的胚胎性神经上皮肿瘤。已确认有几种形态学变异型：经典型髓母细胞瘤、大细胞/间变型髓母细胞瘤、促纤维增生性/结节型髓母细胞瘤和广泛结节型髓母细胞瘤。这些肿瘤在转录组和甲基化组分析方面的最新进展导致了一种分子分类，其中包括4个主要的基因定义组。因此，2016年世界卫生组织中枢神经系统肿瘤分类修订版认可了以下髓母细胞瘤实体：Wnt激活型、音猬因子（SHH）激活型、第3组和第4组。这种转录驱动的分类构成了应用于当前治疗性临床试验的新风险分层方案的基础。由于肿瘤分子异质性的其他层面正逐渐被揭示，4个主要组内已确定了几个临床相关亚组。本文的目的是综述近期在“髓母细胞瘤”认识方面的基础科学和临床进展、其诊断性影像学关联以及这些对当前神经影像学实践的影响。
