Conventional renal cancer in a patient with fumarate hydratase mutation

被引：41

作者：

Lehtonen, Heli J.

Blanco, Ignacio

Piulats, Jose M.

Herva, Riitta

Launonen, Virpi

Aaltonen, Lauri A. ^{[1
]}

机构：

[1] Univ Helsinki, Biomedicum, Dept Med Genet, FIN-00014 Helsinki, Finland

[2] Catalan Inst Oncol, Genet Counseling Unit, Prevent & Canc Control Dept, Lhospitalet De Llobregat 08907, Barcelona, Spain

[3] Catalan Inst Oncol, Genet Counseling Unit, Dept Med Oncol, Lhospitalet De Llobregat 08907, Barcelona, Spain

[4] Oulu Univ Hosp, Dept Pathol, Oulu 90029, Finland

来源：

HUMAN PATHOLOGY | 2007年 / 38卷 / 05期

基金：

芬兰科学院;

关键词：

HLRCC; bilateral renal cell cancer; clear cell; fumarate hydratase; FH;

D O I：

10.1016/j.humpath.2006.10.011

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

Hereditary Ieiomyomatosis and renal cell cancer (HLRCC) is a tumor predisposition syndrome caused by mutations in the fumarate hydratase (FH) gene. HLRCC is characterized by uterine and cutaneous leimyomas, renal cell cancer, and uterine leiomyosarcoma. Typically, renal cell cancers in HLRCC are unilateral and display a papillary type 2 or ductal histology. We describe here a 23-year-old patient carrying a novel FH mutation (N330S) with a bilateral renal cell cancer. Carcinoma of the right kidney showed papillary structure, but the left tumor was diagnosed as a conventional (clear cell) renal carcinoma, a type not previously described in HLRCC. The clear cell renal carcinoma also displayed loss of the normal FH allele and the FH immunostaining. Our finding extends the number of cases in which HLRCC can be suspected, and the FH immunohistochemistry may serve as a useful too] to screen for HLRCC in young individuals with clear cell renal carcinoma. (c) 2007 Elsevier Inc. All rights reserved.

引用

页码：793 / 796

页数：4

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