期刊
HUMAN PATHOLOGY
卷 38, 期 5, 页码 793-796出版社
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.humpath.2006.10.011
关键词
HLRCC; bilateral renal cell cancer; clear cell; fumarate hydratase; FH
类别
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.
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