Department of Developmental Neurobiology, Neurobiology and Brain Tumor Program, St. Jude Children's Research Hospital, Memphis, TN, USA.
Department of Oncology, Neurobiology and Brain Tumor Program, St. Jude Children's Research Hospital, Memphis, TN, USA.
Nat Rev Dis Primers. 2019 Feb 14;5(1):11. doi: 10.1038/s41572-019-0063-6.
Medulloblastoma (MB) comprises a biologically heterogeneous group of embryonal tumours of the cerebellum. Four subgroups of MB have been described (WNT, sonic hedgehog (SHH), Group 3 and Group 4), each of which is associated with different genetic alterations, age at onset and prognosis. These subgroups have broadly been incorporated into the WHO classification of central nervous system tumours but still need to be accounted for to appropriately tailor disease risk to therapy intensity and to target therapy to disease biology. In this Primer, the epidemiology (including MB predisposition), molecular pathogenesis and integrative diagnosis taking histomorphology, molecular genetics and imaging into account are reviewed. In addition, management strategies, which encompass surgical resection of the tumour, cranio-spinal irradiation and chemotherapy, are discussed, together with the possibility of focusing more on disease biology and robust molecularly driven patient stratification in future clinical trials.
髓母细胞瘤(MB)由小脑胚胎肿瘤组成,具有生物学异质性。已经描述了 MB 的四个亚组(WNT、sonic hedgehog(SHH)、Group 3 和 Group 4),每个亚组都与不同的遗传改变、发病年龄和预后相关。这些亚组已广泛纳入世界卫生组织(WHO)中枢神经系统肿瘤分类,但仍需要考虑到这些亚组,以便将疾病风险与治疗强度适当匹配,并根据疾病生物学选择靶向治疗。在这篇综述中,我们回顾了包括 MB 易感性在内的流行病学、分子发病机制和整合诊断,考虑了组织形态学、分子遗传学和影像学。此外,还讨论了手术切除肿瘤、颅脊髓照射和化疗等治疗策略,以及未来临床试验中更关注疾病生物学和稳健的分子驱动的患者分层的可能性。