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AKR1B10 is a New Sensitive and Specific Marker for Fumarate Hydratase-Deficient Renal Cell Carcinoma

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资源类型：
Pubmed体系：
作者：
Linmao Zheng[1,2] ; Xingming Zhang[3] ; Xiuyi Pan[1,2] ; Zhuo Huang[1,2] ; Mengxin Zhang[1,2] ; Jie Xian[1,2] ; Yuyan Wei[1,2] ; Ling Nie[1,2] ; Mengni Zhang[1,2] ; Jing Gong[1,2] ; Xueqin Chen[1,2] ; Qiao Zhou[1,2] ; Hao Zeng[3,*2] ; Ni Chen[1,2,*1] ;
机构： [1]Department of Pathology, West China Hospital, Sichuan University, 610041, Chengdu, China [2]Laboratory of Pathology, West China Hospital, Sichuan University, 610041, Chengdu, China [3]Department of Urology, Institute of Urology, West China Hospital, Sichuan University, 610041, Chengdu, China
出处：
DOI： 10.1016/j.modpat.2023.100303
ISSN：

摘要：
Fumarate hydratase-deficient renal cell carcinoma (FH-deficient RCC) is a rare and distinct subtype of renal cancer caused by fumarate hydratase (FH) gene mutations. FH negativity and s-2-succinocysteine (2SC) positivity on immunohistochemistry can be used to screen for FH-deficient RCC, but their sensitivity and specificity are not perfect. The expression of AKR1B10, an aldo-keto reductase that catalyzes cofactor-dependent oxidation‒reduction reactions, in renal cell carcinoma (RCC) is unclear. We compared AKR1B10, 2SC, and FH as diagnostic biomarkers for FH-deficient RCC. We included genetically confirmed FH-deficient RCCs (n = 58), genetically confirmed TFE3 translocation RCCs (TFE3-tRCC) (n = 83), clear cell RCCs (ccRCC) (n = 188), chromophobe RCCs (chRCC) (n = 128), and papillary RCCs (pRCC) (n = 97). AKR1B10, 2SC, and FH were informative diagnostic markers. AKR1B10 had 100% sensitivity and 91.4% specificity for FH-deficient RCC. Non-specificity of AKR1B10 was shown in 26.5% of TFE3-tRCCs and 21.6% of pRCCs. 2SC showed 100% sensitivity and 88.9% specificity. However, 2SC non-specificity was evident in multiple RCCs, including pRCC, TFE3-tRCC, ccRCC, and chRCC. FH was 100% specific, but 84.5% sensitive. AKR1B10 served as a highly sensitive and specific diagnostic biomarker. Our findings suggest the value of combining AKR1B10 and 2SC to screen for FH-deficient RCC. AKR1B10+/2SC+/FH- cases can be diagnosed as FH-deficient RCC. Patients with AKR1B10+/2SC+/FH+ are highly suspicious for FH-deficient RCC and should be referred for FH genetic tests.Copyright © 2023. Published by Elsevier Inc.

基金：
National Natural Science Foundation of China (NSFC 82273047, 82273073, 82203280, 82172785, 82103097, 81872107, 81872108) and Sichuan Province Science and Technology Support Program (2022YFS0305, 2021YFS0114, 2020YFS0191).
语种：
外文
PubmedID：
中科院(CAS)分区：
出版当年[2023]版：
大类 | 1 区 医学
小类 | 1 区 病理学
最新[2023]版：
大类 | 1 区 医学
小类 | 1 区 病理学
第一作者：
第一作者机构： [1]Department of Pathology, West China Hospital, Sichuan University, 610041, Chengdu, China [2]Laboratory of Pathology, West China Hospital, Sichuan University, 610041, Chengdu, China
共同第一作者：
通讯作者：
通讯机构： [1]Department of Pathology, West China Hospital, Sichuan University, 610041, Chengdu, China [2]Laboratory of Pathology, West China Hospital, Sichuan University, 610041, Chengdu, China [3]Department of Urology, Institute of Urology, West China Hospital, Sichuan University, 610041, Chengdu, China [*1]Department of Pathology, West China Hospital, Sichuan University, Chengdu, 610041, China [*2]Department of Urology, West China Hospital, Sichuan University, Chengdu, 610041, China
推荐引用方式(GB/T 7714)：
Linmao Zheng,Xingming Zhang,Xiuyi Pan,et al.AKR1B10 is a New Sensitive and Specific Marker for Fumarate Hydratase-Deficient Renal Cell Carcinoma[J].Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc.2023,100303.doi:10.1016/j.modpat.2023.100303.
APA：
Linmao Zheng,Xingming Zhang,Xiuyi Pan,Zhuo Huang,Mengxin Zhang...&Ni Chen.(2023).AKR1B10 is a New Sensitive and Specific Marker for Fumarate Hydratase-Deficient Renal Cell Carcinoma.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc,,
MLA：
Linmao Zheng,et al."AKR1B10 is a New Sensitive and Specific Marker for Fumarate Hydratase-Deficient Renal Cell Carcinoma".Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc .(2023):100303

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