The clinical implications of the genetics of renal cell carcinoma

被引:48
作者
Rosner, Inger [1 ]
Bratslavsky, Gennady [1 ]
Pinto, Peter A. [1 ]
Linehan, W. Marston [1 ]
机构
[1] NCI, Urol Oncol Branch, Ctr Canc Res, NIH, Bethesda, MD 20892 USA
关键词
Renal cell carcinoma; Gene; VHL; BHD; HPRC; HLRCC; HIPPEL-LINDAU-DISEASE; TUMOR-SUPPRESSOR GENE; GERMLINE MUTATIONS; FUMARATE-HYDRATASE; HEREDITARY LEIOMYOMATOSIS; SPONTANEOUS PNEUMOTHORAX; CANCER; FAMILIES; HIF; IDENTIFICATION;
D O I
10.1016/j.urolonc.2008.11.001
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
Over the last several decades, the advances in molecular genetics have elucidated kidney cancer gene pathways. Kidney cancer is a heterogeneous disorder. Each specific type of kidney cancer has its own histologic features, gene, and clinical course. Insight into the genetic basis of kidney cancer has been learned largely from the study of the familial or hereditary forms of kidney cancer. Extirpative surgery is currently the treatment of choice for kidney cancer that is confined to the kidney. Treatment for advanced or metastatic kidney cancer is a formidable challenge with the traditional therapies currently available. However, investigation of the Mendelian single-gene syndromes, like von Hippel Lindau (VHL: VHL gene), hereditary papillary renal carcinoma (HPRC: c-Met gene), Birt-Hogg-Dube (BHD: BHD gene), and hereditary leiomyomatosis renal cell cancer (HLRCC: fumarate hydratase gene) provides an opportunity to develop pathway specific therapies. Advances in molecular therapeutics offer novel treatment options for patients with advanced disease. Published by Elsevier Inc.
引用
收藏
页码:131 / 136
页数:6
相关论文
共 55 条
[31]   Renal tumors in the Birt-Hogg-Dube syndrome [J].
Pavlovich, CP ;
Walther, MA ;
Eyler, RA ;
Hewitt, SM ;
Zbar, B ;
Linehan, WM ;
Merino, MJ .
AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2002, 26 (12) :1542-1552
[32]   Phase II placebo-controlled randomized discontinuation trial of sorafnib in patients with metastatic renal cell carcinoma [J].
Ratain, Mark J. ;
Eisen, Tim ;
Stadler, Walter M. ;
Flaherty, Keith T. ;
Kaye, Stan B. ;
Rosner, Gary L. ;
Gore, Martin ;
Desai, Apurva A. ;
Patnaik, Amita ;
Xiong, Henry Q. ;
Rowinsky, Lric ;
Abbruzzese, James L. ;
Xia, Chenghua ;
Simantov, Ronit ;
Schwartz, Brian ;
O'Dwyer, Peter J. .
JOURNAL OF CLINICAL ONCOLOGY, 2006, 24 (16) :2505-2512
[33]  
Schmidt L, 1998, CANCER RES, V58, P1719
[34]   Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dube syndrome [J].
Schmidt, LS ;
Nickerson, ML ;
Warren, MB ;
Glenn, GM ;
Toro, JR ;
Merino, MJ ;
Turner, ML ;
Choyke, PL ;
Sharma, N ;
Peterson, J ;
Morrison, P ;
Maher, ER ;
Walther, MM ;
Zbar, B ;
Linehan, WM .
AMERICAN JOURNAL OF HUMAN GENETICS, 2005, 76 (06) :1023-1033
[35]   Early onset hereditary papillary renal carcinoma:: Germline missense mutations in the tyrosine kinase domain of the met proto-oncogene [J].
Schmidt, LS ;
Nickerson, ML ;
Angeloni, D ;
Glenn, GM ;
Walther, MM ;
Albert, PS ;
Warren, MB ;
Choyke, PL ;
Torres-Cabala, CA ;
Merino, MJ ;
Brunet, J ;
Bérez, V ;
Borràs, J ;
Sesia, G ;
Middelton, L ;
Phillips, JL ;
Stolle, C ;
Zbar, B ;
Pautler, SE ;
Linehan, WM .
JOURNAL OF UROLOGY, 2004, 172 (04) :1256-1261
[36]   Birt-Hogg-Dube syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2 [J].
Schmidt, LS ;
Warren, MB ;
Nickerson, ML ;
Weirich, G ;
Matrosova, V ;
Toro, JR ;
Turner, ML ;
Duray, P ;
Merino, M ;
Hewitt, S ;
Pavlovich, CP ;
Glenn, G ;
Greenberg, CR ;
Linehan, WM ;
Zbar, B .
AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) :876-882
[37]   Ideology and the archaeological record in Africa: Interpreting symbolism in iron smelting technology [J].
Schmidt, PR ;
Mapunda, BB .
JOURNAL OF ANTHROPOLOGICAL ARCHAEOLOGY, 1997, 16 (01) :73-102
[38]  
SHUIN T, 1994, CANCER RES, V54, P2852
[39]  
Stolle C, 1998, HUM MUTAT, V12, P417, DOI 10.1002/(SICI)1098-1004(1998)12:6<417::AID-HUMU8>3.0.CO
[40]  
2-K