Abstract：
The World Health Organization has updated their classification system for the diagnosis of gliomas, combining histological features with molecular data including isocitrate dehydrogenase 1 and codeletion of chromosomal arms 1p and 19q. 1p/19q codeletion analysis is commonly performed by fluorescence in situ hybridization (FISH). In this study, we developed a 57-gene targeted next-generation sequencing (NGS) panel including 1p/19q codeletion detection mainly to assess diagnosis and potential treatment response in melanoma, gastrointestinal stromal tumor, and glioma patients. Loss of heterozygosity analysis was performed using the NGS method on 37 formalin-fixed paraffin-embedded glioma tissues that showed 1p and/or 19q loss determined by FISH. Conventional methods were applied for the validation of some glioma-related gene mutations. In 81.1% (30 of 37) and 94.6% (35 of 37) of cases, 1p and 19q were found to be in agreement whereas concordance for 1p/19q codeletion and no 1p/19q codeletion was found in 94.7% (18 of 19) and 94.4% (17 of 18) of cases, respectively. Overall, comparing NGS results with those of conventional methods showed high concordance. In conclusion, the NGS panel allows reliable analysis of 1p/19q codeletion and mutation at the same time.
摘要：
世界卫生组织更新了诊断胶质瘤的分类系统，结合组织学特征和分子数据，包括异柠檬酸脱氢酶1和染色体臂1p和19q的共缺失。1p/19q共缺失分析通常通过荧光原位杂交(FISH)进行。在这项研究中,我们开发了一个57基因靶向下一代测序（NGS）小组，包括1p/19q共缺失检测，主要用于评估黑色素瘤的诊断和潜在治疗反应，胃肠道间质瘤,还有神经胶质瘤患者.使用NGS方法对37个福尔马林固定的石蜡包埋的神经胶质瘤组织进行杂合性丢失分析，这些组织显示通过FISH确定的1p和/或19q丢失。常规方法用于验证一些神经胶质瘤相关基因突变。在81.1%(37个中的30个)和94.6%(37个中的35个)的病例中,发现1p和19q一致，而在94.7％（19个中的18个）和94.4％（18个中的17个）的病例中发现1p/19q共缺失和1p/19q共缺失的一致性，分别。总的来说,将NGS结果与常规方法的结果进行比较显示出高度一致性。总之,NGS面板允许同时可靠地分析1p/19q共缺失和突变.
