van den Bent Martin J, Weller Michael, Wen Patrick Y, Kros Johan M, Aldape Ken, Chang Susan
Department of Neurology and Brain Tumor Center, Erasmus MC Cancer Institute, Rotterdam, the Netherlands
Department of Neurology and Brain Tumor Center, University Hospital and University of Zurich, Zurich, Switzerland
Neuro Oncol. 2017 May 1;19(5):614-624. doi: 10.1093/neuonc/now277.
The 2007 World Health Organization (WHO) classification of brain tumors did not use molecular abnormalities as diagnostic criteria. Studies have shown that genotyping allows a better prognostic classification of diffuse glioma with improved treatment selection. This has resulted in a major revision of the WHO classification, which is now for adult diffuse glioma centered around isocitrate dehydrogenase (IDH) and 1p/19q diagnostics. This revised classification is reviewed with a focus on adult brain tumors, and includes a recommendation of genes of which routine testing is clinically useful. Apart from assessment of IDH mutational status including sequencing of R132H-immunohistochemistry negative cases and testing for 1p/19q, several other markers can be considered for routine testing, including assessment of copy number alterations of chromosome 7 and 10 and of TERT promoter, BRAF, and H3F3A mutations. For "glioblastoma, IDH mutated" the term "astrocytoma grade IV" could be considered. It should be considered to treat IDH wild-type grades II and III diffuse glioma with polysomy of chromosome 7 and loss of 10q as glioblastoma. New developments must be more quickly translated into further revised diagnostic categories. Quality control and rapid integration of molecular findings into the final diagnosis and the communication of the final diagnosis to clinicians require systematic attention.
2007年世界卫生组织(WHO)的脑肿瘤分类未将分子异常作为诊断标准。研究表明,基因分型能对弥漫性胶质瘤进行更好的预后分类,从而改进治疗选择。这导致了WHO分类的重大修订,目前成人弥漫性胶质瘤的分类围绕异柠檬酸脱氢酶(IDH)和1p/19q诊断展开。本文对这一修订分类进行综述,重点关注成人脑肿瘤,并推荐了临床上进行常规检测有用的基因。除了评估IDH突变状态,包括对R132H免疫组化阴性病例进行测序以及检测1p/19q外,还可考虑对其他几个标志物进行常规检测,包括评估染色体7和10的拷贝数改变以及TERT启动子、BRAF和H3F3A突变。对于“IDH突变型胶质母细胞瘤”,可考虑使用“IV级星形细胞瘤”这一术语。应考虑将具有染色体7多体性和10q缺失的IDH野生型II级和III级弥漫性胶质瘤作为胶质母细胞瘤进行治疗。新进展必须更快地转化为进一步修订的诊断类别。质量控制以及将分子检测结果快速整合到最终诊断中,并将最终诊断传达给临床医生,都需要系统关注。