A case report of hereditary leiomyomatosis and renal cell cancer.
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.
Department of Obstetrics and Gynecology, New York Presbyterian Hospital-Cornell University Medical Center, New York, NY, USA.
Melissa K
MK
Frey
Michael J
MJ
Worley
Katherine P
KP
Heyman
Thomas A
TA
Caputo
D000328:Adult; D002292:Carcinoma, Renal Cell / Q000235:genetics* / Q000601:surgery; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D018231:Leiomyomatosis / Q000235:genetics* / Q000601:surgery; D008297:Male; D010375:Pedigree; D012878:Skin Neoplasms / Q000235:genetics* / Q000601:surgery; D013577:Syndrome; D014594:Uterine Neoplasms / Q000235:genetics* / Q000601:surgery