Arid
DOI10.1016/j.humpath.2018.04.004
SWI/SNF protein expression status in fumarate hydratase-deficient renal cell. carcinoma: immunohisto-chemical analysis of 32 tumors from 28 patients
Agaimy, Abbas1; Amin, Mahul B.2; Gill, Anthony3,4,5; Popp, Bernt6; Reis, Andre6; Berney, Daniel M.7; Magi-Galluzzi, Cristina8; Sibony, Mathilde9; Smith, Steven C.10; Suster, Saul11; Trpkov, Kiril12,13; Hes, Ondrej14,15; Hartmann, Arndt1
通讯作者Agaimy, Abbas
来源期刊HUMAN PATHOLOGY
ISSN0046-8177
EISSN1532-8392
出版年2018
卷号77页码:139-146
英文摘要

Fumarate hydratase-deficient renal cell carcinoma (FH-RCC) is a rare, aggressive RCC type, originally described in the setting of hereditary leiomyomatosis and RCC syndrome, which is defined by germline FH gene inactivation. Inactivation of components of the switch/sucrose nonfermentable (SWI/ SNF) chromatin remodeling complex is involved in renal medullary carcinoma (SMARCB1/INI1 loss), clear cell RCC (PBRM1 loss), and subsets of dedifferentiated RCC of clear cell, chromophobe, and papillary types (loss of different SWI/SNF components). FH-RCC and SWI/SNF-deficient RCC share anaplastic nuclear features and highly aggressive course. We analyzed 32 FH-RCCs from 28 patients using 7 commercially available SWI/SNF antibodies (SMARCB1/INI1, SMARCA2, SMARCA4, SMARCC1, SMARCC2, PBRM1, and ARID1A). Variable loss of SMARCB1, ARID1A, and SMARCC1 was observed in 1 of 31, 2 of 31, and 1 of 29 evaluable cases, respectively; 3 of these 4 SWI/SNF-deficient tumors had confirmed FH mutations. No correlation of SWI/SNF loss with solid or sarcomatoid features was observed. Two Minors with SMARCB1 and ARID IA deficiency had available SWI/SNF molecular data; both lacked SMARCB1 and ARIDIA mutations. The remaining 5 SWI/SNF components were intact in all cases. Especially PBRM1 seems not to be involved in the pathogenesis or progression of FH-RCC. Our data showed that a subset of FH-RCC (12%) have a variable loss of SWI/SNF complex subunits, likely as secondary genetic events. This should not be confused with SWI/SNF-deficient RCC of other types. Evaluation of FH and SWI/SNF together with comprehensive molecular genetic profiling is needed to explore possible prognostic implications of FH/SWI-SNF double deficiency and to better understand the somatic mutation landscape in high-grade RCC. (C) 2018 Elsevier Inc. All rights reserved.


英文关键词SWI/SNF complex HLRCC Fumarate hydratase Renal cell carcinoma SMARCB1 INI1 ARID1A
类型Article
语种英语
国家Germany ; USA ; Australia ; England ; France ; Canada ; Czech Republic
收录类别SCI-E
WOS记录号WOS:000438326300017
WOS关键词COLLECTING DUCT CARCINOMA ; HEREDITARY LEIOMYOMATOSIS ; MEDULLARY CARCINOMA ; DOWN-REGULATION ; CANCER ; MUTATION ; FEATURES ; PBRM1
WOS类目Pathology
WOS研究方向Pathology
资源类型期刊论文
条目标识符http://119.78.100.177/qdio/handle/2XILL650/209856
作者单位1.Friedrich Alexander Univ Erlangen Nuremberg, Inst Pathol, Univ Hosp Erlangen, D-91054 Erlangen, Germany;
2.Univ Tennessee Hlth Sci, Dept Pathol & Lab Med, Memphis, TN 38103 USA;
3.Univ Sydney, Sydney, NSW 2006, Australia;
4.Royal North Shore Hosp, Kolling Inst, Canc Diag & Pathol Grp, St Leonards, NSW 2065, Australia;
5.Royal North Shore Hosp, Dept Anat Pathol, NSW Hlth Pathol, St Leonards, NSW 2065, Australia;
6.Friedrich Alexander Univ Erlangen Nurnberg FAU Er, Inst Human Genet, Erlangen, Germany;
7.Queen Mary Univ London, Barts Canc Inst, London ECIM 6BQ, England;
8.Cleveland Clin, Cleveland, OH 44195 USA;
9.Hosp Cochin, F-75679 Paris, France;
10.VCU Sch Med, Dept Pathol, Richmond, VA 23298 USA;
11.Med Coll Wisconsin, Milwaukee, WI 53226 USA;
12.Calgary Lab Serv, Calgary, AB, Canada;
13.Univ Calgary, Calgary, AB, Canada;
14.Charles Univ Prague, Plzen 30460, Czech Republic;
15.Univ Hosp Plzen, Plzen 30460, Czech Republic
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Agaimy, Abbas,Amin, Mahul B.,Gill, Anthony,et al. SWI/SNF protein expression status in fumarate hydratase-deficient renal cell. carcinoma: immunohisto-chemical analysis of 32 tumors from 28 patients[J],2018,77:139-146.
APA Agaimy, Abbas.,Amin, Mahul B..,Gill, Anthony.,Popp, Bernt.,Reis, Andre.,...&Hartmann, Arndt.(2018).SWI/SNF protein expression status in fumarate hydratase-deficient renal cell. carcinoma: immunohisto-chemical analysis of 32 tumors from 28 patients.HUMAN PATHOLOGY,77,139-146.
MLA Agaimy, Abbas,et al."SWI/SNF protein expression status in fumarate hydratase-deficient renal cell. carcinoma: immunohisto-chemical analysis of 32 tumors from 28 patients".HUMAN PATHOLOGY 77(2018):139-146.
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