Abstract
BackgroundHereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant disorder predisposing humans to cutaneous and uterine leiomyomas; in 20% of affected families, type 2 papillary renal cell cancers...
Highlights
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC, OMIM 605839) is an autosomal dominant familial disorder characterized by the development of cutaneous and uterine leiomyomas, renal cell carcinoma (RCC), and rarely uterine leiomyosarcomas.[1, 2] Hereditary leiomyomatosis and renal cell cancer (HLRCC) was previously called multiple cutaneous and uterine leiomyomatosis (MCUL, OMIM 150800), as the association between skin and uterine leiomyomas was described before the discovery of RCC predisposition
The present study reports the identification and analysis of fumarate hydratase (FH) mutations, including 21novel, in 40 families with MCUL/HLRCC and, for the first time, in 4 patients with isolated PRCCII
We found only one family with large deletion confirming that germline copy loss of FH is a rare genetic event. [6]
Summary
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC, OMIM 605839) is an autosomal dominant familial disorder characterized by the development of cutaneous and uterine (fibroid) leiomyomas, renal cell carcinoma (RCC), and rarely uterine leiomyosarcomas.[1, 2] HLRCC was previously called multiple cutaneous and uterine leiomyomatosis (MCUL, OMIM 150800), as the association between skin and uterine leiomyomas was described before the discovery of RCC predisposition. Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant disorder predisposing humans to cutaneous and uterine leiomyomas; in 20% of affected families, type 2 papillary renal cell cancers (PRCCII) occur with aggressive course and poor prognosis. HLRCC results from heterozygous germline mutations in the tumor suppressor fumarate hydratase (FH) gene
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