Developmental Biology and Cancer Programme, UCL GOS Institute of Child Health, London, UK.
Department of Histopathology, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.
Neuropathol Appl Neurobiol. 2018 Feb;44(2):151-162. doi: 10.1111/nan.12443.
Embryonal tumours of the central nervous system (CNS) present a significant clinical challenge. Many of these neoplasms affect young children, have a very high mortality and therapeutic strategies are often aggressive with poor long-term outcomes. There is a great need to accurately diagnose embryonal tumours, predict their outcome and adapt therapy to the individual patient's risk. For the first time in 2016, the WHO classification took into account molecular characteristics for the diagnosis of CNS tumours. This integration of histological features with genetic information has significantly changed the diagnostic work-up and reporting of tumours of the CNS. However, this remains challenging in embryonal tumours due to their previously unaccounted tumour heterogeneity. We describe the recent revisions made to the 4th edition of the WHO classification of CNS tumours and review the main changes, while highlighting some of the more common diagnostic testing strategies.
中枢神经系统（CNS）胚胎性肿瘤是一项重大的临床挑战。这些肿瘤中有许多影响到幼儿，死亡率非常高，而且治疗策略往往具有侵袭性，长期预后较差。因此，迫切需要准确诊断胚胎性肿瘤，预测其结果，并根据个体患者的风险调整治疗方案。2016 年，世界卫生组织（WHO）分类首次将分子特征纳入 CNS 肿瘤的诊断。这种将组织学特征与遗传信息相结合的方法，极大地改变了 CNS 肿瘤的诊断工作流程和报告方式。然而，由于胚胎性肿瘤以前没有考虑到肿瘤异质性，这仍然具有挑战性。我们描述了最近对第 4 版 CNS 肿瘤 WHO 分类所做的修订，并回顾了主要的变化，同时强调了一些更常见的诊断测试策略。
