Preusser Matthias, Bent Martin van den
Department of Medicine I and Comprehensive Cancer Center CNS Unit, Medical University of Vienna, Austria.
Clin Neuropathol. 2013 Mar-Apr;32(2):82-3. doi: 10.5414/np300622.
Isocitrate dehydrogenase 1 (IDH1) gene mutations occur in ~ 60 - 90% of diffuse and anaplastic gliomas and secondary glioblastomas. IDH status is strongly associated with patient survival times and IDH testing is relevant for clinical patient management and for stratification in clinical trials. A recent interlaboratory ring trial shows that immunohistochemistry is a highly reliable method to detect the most common IDH mutation (R132H), while IDH gene sequencing is less robust. These results support initial immunohistochemistry and subsequent gene sequencing in cases with negative or inconclusive immunostaining result as valid algorithm for IDH testing. Furthermore, they highlight the need for strict quality control of DNA-based biomarker analyses on formalinfixed and paraffin-embedded tumor samples.
异柠檬酸脱氢酶1(IDH1)基因突变发生在约60%-90%的弥漫性和间间间间变性胶质瘤以及继发性胶质母细胞瘤中。IDH状态与患者生存时间密切相关,IDH检测对于临床患者管理和临床试验分层具有重要意义。最近的一项实验室间环形试验表明,免疫组织化学是检测最常见IDH突变(R132H)的高度可靠方法,而IDH基因测序的可靠性较低。这些结果支持将初始免疫组织化学以及免疫染色结果为阴性或不确定病例的后续基因测序作为IDH检测的有效算法。此外,它们凸显了对福尔马林固定石蜡包埋肿瘤样本进行基于DNA的生物标志物分析时严格质量控制的必要性。