A case report of hereditary leiomyomatosis and renal cell cancer.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 20510956.
- Also identified by DOI 10.1016/j.ajog.2010.03.042.
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Abstract
A 27-year-old woman, gravida 0, presented with uterine and cutaneous leiomyomata. Genetic testing confirmed hereditary leiomyomatosis and renal cell cancer syndrome, an autosomal dominant disorder caused by germline mutations in the fumarate hydratase gene. Specific screening guidelines do not exist and are often individual and treatment center dependent.
Medical subject headings
- Carcinoma, Renal Cell
- Leiomyomatosis
- Skin Neoplasms
- Uterine Neoplasms