Seeing the smoking gun: a sensitive and specific method to visualize loss of the tumour suppressor, fumarate hydratase, in human tissues

被引：10

作者：

Maxwell, Patrick H. ^{[1
]}

机构：

[1] UCL, Div Med, London WC1E 6JF, England

来源：

JOURNAL OF PATHOLOGY | 2011年 / 225卷 / 01期

基金：

英国惠康基金; 英国医学研究理事会;

关键词：

fumarate hydratase; hereditary leiomyomatosis and renal cell carcinoma; papillary renal cell carcinoma; RENAL-CELL CARCINOMA; CANCER; FH; LEIOMYOMATOSIS; DEFICIENCY; ACTIVATION; MUTATIONS; PATHWAY;

D O I：

10.1002/path.2950

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

In this issue of the Journal of Pathology, Bardella et al report a method for identifying tumours that lack fumarate hydratase. The approach they use is immunodetection of proteins that have been modified by a non-enzymatic reaction of thiol groups in proteins with fumarate, which is termed succination. Validation included the use of mice with targeted inactivation of fumarate hydratase in the kidney, extensive studies of normal human tissues and examination of over 1000 specimens from human cancers not associated with FH mutations. Detection of protein succination is likely to provide a sensitive and specific method for pathologists to identify the small proportion of papillary renal cell carcinomas that are associated with germline mutations in the FH gene. Copyright (C) 2011 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

引用

页码：1 / 3

页数：3

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