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《临床神经病理学实践新闻》2013年第2期:免疫组化确定胶质瘤中的异柠檬酸脱氢酶——分子检测程序受审查

Clinical neuropathology practice news 2-2013: immunohistochemistry pins IDH in glioma - molecular testing procedures under scrutiny.

作者信息

Preusser Matthias, Bent Martin van den

机构信息

Department of Medicine I and Comprehensive Cancer Center CNS Unit, Medical University of Vienna, Austria.

出版信息

Clin Neuropathol. 2013 Mar-Apr;32(2):82-3. doi: 10.5414/np300622.

Abstract

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.

摘要

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。

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Interlaboratory comparison of IDH mutation detection.IDH 突变检测的实验室间比较。
J Neurooncol. 2013 Apr;112(2):173-8. doi: 10.1007/s11060-013-1056-z. Epub 2013 Jan 29.

本文引用的文献

1
Interlaboratory comparison of IDH mutation detection.IDH 突变检测的实验室间比较。
J Neurooncol. 2013 Apr;112(2):173-8. doi: 10.1007/s11060-013-1056-z. Epub 2013 Jan 29.
6
Monoclonal antibody specific for IDH1 R132H mutation.针对 IDH1 R132H 突变的单克隆抗体。
Acta Neuropathol. 2009 Nov;118(5):599-601. doi: 10.1007/s00401-009-0595-z. Epub 2009 Oct 2.
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An integrated genomic analysis of human glioblastoma multiforme.多形性胶质母细胞瘤的综合基因组分析
Science. 2008 Sep 26;321(5897):1807-12. doi: 10.1126/science.1164382. Epub 2008 Sep 4.

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