A case report of hereditary leiomyomatosis and renal cell cancer.

doi:10.1016/j.ajog.2010.03.042

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Article

A case report of hereditary leiomyomatosis and renal cell cancer.

American journal of obstetrics and gynecology - 1 Jun 2010

Frey Melissa K, Worley Michael J, Heyman Katherine P, Caputo Thomas A

Abstract excerpt

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.

Topics

Adult
Carcinoma, Renal Cell
Female
Genetic Predisposition to Disease
Humans
Leiomyomatosis
Male
Pedigree
Skin Neoplasms
Syndrome
Uterine Neoplasms

Source

Open in PubMed

Identifiers

PMID: 20510956
DOI: 10.1016/j.ajog.2010.03.042

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