Petersen Jeanette K, Scheie David, Boldt Henning B, Ulhøi Benedicte P, Ettrup Marianne S, Kristensen Bjarne W
Ugeskr Laeger. 2019 Feb 4;181(6).
Diagnostics of tumours of the central nervous system has for decades been based entirely on microscopy. A con-siderable degree of diagnostic interobserver variability has been observed due to imprecise histological criteria. In the revised WHO classification for central nervous system tumours from 2016, several diagnoses are now defined by both histological and molecular features and constitute "integrated diagnoses". The development based on new technologies like next-generation sequencing and DNA methylation profiling is discussed in this review as well as its implication for daily diagnostics and the patient.
几十年来,中枢神经系统肿瘤的诊断完全基于显微镜检查。由于组织学标准不精确,已观察到观察者之间存在相当程度的诊断差异。在2016年世界卫生组织修订的中枢神经系统肿瘤分类中,现在有几种诊断是由组织学和分子特征共同定义的,构成了“综合诊断”。本综述讨论了基于新一代测序和DNA甲基化分析等新技术的发展及其对日常诊断和患者的影响。