Mutations in BHD and TP53 genes, but not in HNF1β gene, in a large series of sporadic chromophobe renal cell carcinoma

被引：55

作者：

Gad, S.

Lefevre, S. H.

Khoo, S. K.

Giraud, S.

Vieillefond, A.

Vasiliu, V.

Ferlicot, S.

Molinie, V.

Denoux, Y.

Thiounn, N.

Chretien, Y.

Mejean, A.

Zerbib, M.

Benoit, G.

Herve, J. M.

Allegre, G.

Bressac-de Paillerets, B.

Teh, B. T.

Richard, S.

机构：

[1] Fac Med Paris Sud, Genet Oncol EPHE, F-94270 Le Kremlin Bicetre, France

[2] Inst Gustave Roussy, Genet Oncol EPHE, CNRS, FRE 2939, F-94800 Villejuif, France

[3] Van Andel Inst, Canc Genet Lab, Grand Rapids, MI 49503 USA

[4] Hop Edouard Herriot, Genet Lab, F-69003 Lyon, France

[5] Hop Cochin, Lab Anat Pathol, F-75014 Paris, France

[6] Hop Necker Enfants Malad, Anat Pathol Lab, AP HP, F-75015 Paris, France

[7] Hop Bicetre, Lab Anat Pathol, AP HP, F-94270 Le Kremlin Bicetre, France

[8] Hop Foch, Lab Anat Pathol, F-92150 Suresnes, France

[9] Hop Necker Enfants Malad, Urol Serv, AP HP, F-75015 Paris, France

[10] Hop Cochin, Urol Serv, AP HP, F-75014 Paris, France

[11] Hop Bicetre, Urol Serv, AP HP, F-94270 Le Kremlin Bicetre, France

[12] Hop Foch, Urol Serv, F-92150 Suresnes, France

[13] Inst Cancerol Gustave Roussy, F-94800 Villejuif, France

来源：

BRITISH JOURNAL OF CANCER | 2007年 / 96卷 / 02期

关键词：

chromophobe renal cell carcinoma; BHD; TP53; HNF1; beta; mutation; polymorphism;

D O I：

10.1038/sj.bjc.6603492

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

BHD, TP53, and HNF1 beta on chromosome 17 were studied in 92 cases of renal cell carcinoma (46 chromophobe, 19 clear cell, 18 oncocytoma, and nine papillary). Six, thirteen, and zero cases had, respectively BHD, TP53, and HNF1b mutations, (84% mutations involved chromophobe), suggesting a role for BHD and TP53 in chromophobe subtype.

引用

页码：336 / 340

页数：5

共 15 条

[1] Sarcomatoid renal cell carcinoma - An examination of underlying histologic subtype and an analysis of associations with patient outcome [J].

Cheville, JC ;

Lohse, CM ;

Zincke, H ;

Weaver, AL ;

Leibovich, BC ;

Frank, I ;

Blute, ML .

AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2004, 28 (04) :435-441

[2]

Contractor H, 1997, J PATHOL, V181, P136, DOI 10.1002/(SICI)1096-9896(199702)181:2<136::AID-PATH766>3.0.CO

[3]

2-2

[4]

da Silva NF, 2003, J MED GENET, V40, P820

[5]

Holmila R, 2003, Hum Mutat, V21, P101, DOI 10.1002/humu.9104

[6] Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY [J].

Horikawa, Y ;

Iwasaki, N ;

Hara, M ;

Furuta, H ;

Hinokio, Y ;

Cockburn, BN ;

Lindner, T ;

Yamagata, K ;

Ogata, M ;

Tomonaga, O ;

Kuroki, H ;

Kasahara, T ;

Iwamoto, Y ;

Bell, GI .

NATURE GENETICS, 1997, 17 (04) :384-385

[7]

Khoo SK, 2003, CANCER RES, V63, P4583

[8] Clinical and genetic studies of Birt-Hogg-Dube syndrome [J].

Khoo, SK ;

Giraud, S ;

Kahnoski, K ;

Chen, J ;

Motorna, O ;

Nickolov, R ;

Binet, O ;

Lambert, D ;

Friedel, J ;

Lévy, R ;

Ferlicot, S ;

Wolkenstein, P ;

Hammel, P ;

Bergerheim, U ;

Hedblad, MA ;

Bradley, M ;

Teh, BT ;

Nordenskjöld, M ;

Richard, S .

JOURNAL OF MEDICAL GENETICS, 2002, 39 (12) :906-912

[9] Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome [J].

Nickerson, ML ;

Warren, MB ;

Toro, JR ;

Matrosova, V ;

Glenn, G ;

Turner, ML ;

Duray, P ;

Merino, M ;

Choyke, P ;

Pavlovich, CP ;

Sharma, N ;

Walther, M ;

Munroe, D ;

Hill, R ;

Maher, E ;

Greenberg, C ;

Lerman, MI ;

Linehan, WM ;

Zbar, B ;

Schmidt, LS .

CANCER CELL, 2002, 2 (02) :157-164

[10]

ODA H, 1995, CANCER RES, V55, P658

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