[1]冯哲斌,张宇,孔东生,等.Crispr-Cas12a在成人弥漫性胶质瘤异柠檬酸脱氢酶2基因突变检测中的应用[J].中国临床神经外科杂志,2023,28(08):517-521.[doi:10.13798/j.issn.1009-153X.2023.08.011]
 FENG Zhe-bin,KONG Dong-sheng,WU Qi-jia,et al.Application of Crispr-Cas12a in the detection of isocitrate dehydrogenase 2 gene mutation in adult diffuse gliomas[J].,2023,28(08):517-521.[doi:10.13798/j.issn.1009-153X.2023.08.011]
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Crispr-Cas12a在成人弥漫性胶质瘤异柠檬酸脱氢酶2基因突变检测中的应用()
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《中国临床神经外科杂志》[ISSN:1009-153X/CN:42-1603/TN]

卷:
28
期数:
2023年08期
页码:
517-521
栏目:
实验研究
出版日期:
2023-08-31

文章信息/Info

Title:
Application of Crispr-Cas12a in the detection of isocitrate dehydrogenase 2 gene mutation in adult diffuse gliomas
文章编号:
1009-153X(2023)08-0517-05
作者:
冯哲斌张宇孔东生武其嘉王俊祥余新光冯世宇
100089北京,解放军总医院第一医学中心神经外科医学部(冯哲斌、张宇、孔东生、武其嘉、王俊祥、余新光、冯世宇)
Author(s):
FENG Zhe-bin KONG Dong-sheng WU Qi-jia ZHANG Yu WANG Jun-xiang YU Xin-guang FENG Shi-yu
Department of Neurosurgery, The First Medical Center of PLA General Hospital, Beijing 100089, China
关键词:
成人弥漫性胶质瘤异柠檬酸脱氢酶2基因突变Crispr-Cas12a基因直接测序
Keywords:
Adult diffuse gliomas Isocitrate dehydrogenase 2 Crispr-Cas12a Direct sequencing
分类号:
A
DOI:
10.13798/j.issn.1009-153X.2023.08.011
文献标志码:
R 739.41
摘要:
目的 探讨Crispr-Cas12a方法对成人弥漫性胶质瘤异柠檬酸脱氢酶2(IDH2)基因R172K单核苷酸多态性的检测效能。方法 选择2019年1月至2022年9月手术切除的初治成人弥漫性胶质瘤组织样本112例,利用Crispr-Cas12a方法和直接测序法检测样本IDH2-R172K位点突变情况,以直接测序法为金标准。结果 112例中,9例IDH2-R172K突变型,103例IDH2-R172K野生型。ROC曲线分析显示,曲线下面积为0.967,约登指数为0.892,最佳截断值为590。以590作为IDH2-R172K突变型和野生型样本的阈值,Crispr-Cas12a法的灵敏性为96.3%(95% CI 81.7%~99.3%),特异性为92.9%(95% CI 89.5%~95.3%)。Crispr-Cas12a法与直接测序法一致性检验Kappa值为0.658,一致性较好。 结论 Crispr-Cas12a方法能快速、准确地检测成人弥漫性胶质瘤组织样IDH2-R172K突变情况,可作为术中快速检测IDH2-R172K突变的方法。
Abstract:
Objective To investigate the efficacy of Crispr-Cas12a in the detection of R172K single nucleotide polymorphism of isocitrate dehydrogenase 2 (IDH2) gene in adult diffuse gliomas. Methods A total of 112 newly diagnosed adult diffuse glioma tissue samples were selected from January 2019 to September 2022, and IDH2-R172K mutations were detected by Crispr-Cas12a and direct sequencing, with direct sequencing as the gold standard. Results Of 112 samples, 9 were IDH2-R172K mutant and 103 were IDH2-R172K wild type. ROC curve analysis of Crispr-Cas12a detection results showed that the area under the curve was 0.967, the Jorden index was 0.892, and the best cutoff value was 590. Using 590 as the threshold for IDH2-R172K mutant and wild-type, the sensitivity and specificity of Crispr-Cas12a were 96.3% (95%CI 81.7%~99.3%) and 92.9% (95%CI 89.5%~95.3%), respectively. The Kappa value of Crispr-Cas12a and direct sequencing was 0.658, showing good consistency. Conclusions Crispr-Cas12a can rapidly and accurately detect IDH2-R172K mutation in adult diffuse glioma tissues, and can be used as a method for rapid intraoperative detection of IDH2-R172K mutation.

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备注/Memo

备注/Memo:
(2023-02-12收稿,2023-07-31修回)
基金项目:军队装备研发项目(LB20201A060004)
通讯作者:冯世宇,E-mail:fsy72123@163.com
余新光,E-mail:xinguangyu@sina.com
更新日期/Last Update: 2022-08-31