Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)

Authors: Maija Kiuru; Virpi Launonen

Source: Current Molecular Medicine, Volume 4, Number 8, December 2004 , pp. 869-875(7)

Publisher: Bentham Science Publishers

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Abstract:

Hereditary leiomyomatosis and renal cell cancer (HLRCC) (MIM 605839) is a recently identified autosomal dominant tumor susceptibility syndrome characterized by predisposition to benign leiomyomas of the skin and the uterus (fibroids, myomas). Susceptibility to early-onset renal cell carcinoma and uterine leiomyosarcoma is present in a subset of families. Renal cell carcinomas are typically solitary and aggressive tumors displaying papillary type 2 or collecting duct histology. The disease predisposing gene was identified as fumarate hydratase (fumarase, FH) (MIM 136850). FH encodes an enzyme that operates in the mitochondrial Krebs cycle being thus involved in cellular energy metabolism. The recent discovery of HLRCC and the predisposing gene FH has increased the present knowledge of hereditary renal cancer and enabled identification of the predisposed individuals. This review provides the present knowledge of the clinical, histopathological, and molecular features of HLRCC. Future prospects related to studies on the phenotype and molecular biology of HLRCC will also be discussed.

Keywords: hlrcc; fh; fumarase; leiomyoma; leiomyosarcoma; renal cancer

Document Type: Review article

DOI: http://dx.doi.org/10.2174/1566524043359638

Affiliations: 1: Department of Medical Genetics, Molecular and Cancer Biology Program, Biomedicum Helsinki, University of Helsinki, P.O. Box 63 (Haartmaninkatu 8), FIN- 00014 Helsinki, Helsinki, Finland.

Publication date: 2004-12-01

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Current Molecular Medicine is an interdisciplinary journal focused on providing the readership with current and comprehensive reviews on fundamental molecular mechanisms of disease pathogenesis, the development of molecular-diagnosis and/or novel approaches to rational treatment. The reviews should be of significant interest to basic researchers and clinical investigators in molecular medicine. Periodically the journal will invite guest editors to devote an issue on a basic research area that shows promise to advance our understanding of the molecular mechanism(s) of a disease or has potential for clinical applications.

Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)

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