Hereditary Leiomyomatosis and Renal Cell Cancer – HLRCC / / Multiple Cutaneous and Uterine Leimomyomatosis – MCUL

Authors: P. Plevová 1,2;  A. Hladíková 1;  M. Tesařová 3
Authors‘ workplace: Oddělení lékařské genetiky, Fakultní nemocnice Ostrava 1;  Lékařská fakulta Ostravské univerzity v Ostravě 2;  Klinika dětského a dorostového lékařství, 1. LF UK a VFN v Praze 3
Published in: Klin Onkol 2012; 25(Supplementum): 55-58


Hereditary leiomyomatosis and renal cell cancer / multiple cutaneous and uterine leimomyomatosis is a relatively rare autosomal dominant condition which predisposes to the development of cutaneous and uterine leiomyomas and early-onset renal cell carcinoma, typically papillary carcinoma type II. It is caused by germline mutations in the FH gene encoding the fumarate hydratase enzyme. The test of fumarate hydratase activity in lymphocytes may be used as a screening method with subsequent mutation analysis of the FH gene in persons with reduced enzyme activity. Persons with this syndrome should be followed to detect any occurrence of these diseases. Treatment of renal cancer associated with the hereditary leiomyomatosis and renal cell cancer syndrome should be radical with respect to its aggressive nature.

Key words:
cutaneous leiomyomatosis – uterine leiomyomatosis – renal cancer – fumarate hydratase – FH gene – hereditary cancer syndromes

This study was supported by EsF Operational programm Education for Competitiveness OP (ECOP) CZ.1.07/2.3.00/20.0040.

The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.

The Editorial board declares that the manuscript met the ICMJE “uniform requirements” for biomedical papers.

15. 5. 2012

26. 5. 2012


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