Hereditary leiomyomatosis and renal cell carcinoma
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a recently identified autosomal dominant tumour susceptibility syndrome.
It is characterised by:
- predisposition to benign cutaneous and uterine leiomyomas (fibroids, myomas)
- susceptibility to early-onset renal cell carcinoma
- typically solitary and aggressive tumours where histological types include papillary type 2 or collecting duct types
- susceptibility to uterine leiomyosarcoma
- in a subset of families
Mutations in the gene fumarate hydratase (fumarase, FH) has been identified as the responsible underlying mechanism.
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- 2. Toro JR, Nickerson ML, Wei MH et-al. Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. Am. J. Hum. Genet. 2003;73 (1): 95-106. doi:10.1086/376435 - Free text at pubmed - Pubmed citation
- 3. Alam NA, Olpin S, Leigh IM. Fumarate hydratase mutations and predisposition to cutaneous leiomyomas, uterine leiomyomas and renal cancer. Br. J. Dermatol. 2005;153 (1): 11-7. Br. J. Dermatol. (full text) - doi:10.1111/j.1365-2133.2005.06678.x - Pubmed citation