Fumarate Hydratase Mutation in a Young Woman With Uterine Leiomyomas and a Family History of Renal Cell Cancer.
BACKGROUND
Heterozygous gene mutations in fumarate hydratase can result in a syndrome characterized by hereditary (cutaneous and uterine) leiomyomatosis and renal cell cancer. This disorder has been described in more than 200 families, but the prevalence of the disease is unknown.


METHODS
A 22 year-old woman of Bangladeshi lineage presented with menorrhagia and pelvic pain secondary to uterine leiomyomas and underwent an abdominal myomectomy. Because of a family history of renal cell cancer, she was tested for fumarate hydratase mutations and found to be a carrier. As a result of the risk of renal cell cancer associated with this mutation, an annual surveillance plan was initiated.


CONCLUSIONS
Fumarate hydratase gene mutations should be considered in women presenting with leiomyomas and a family history of renal cancer.
Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of Texas Southwestern Medical Center, Dallas, Texas.
Merry Lynn
ML
Mann
Mohammad
M
Ezzati
Edward D
ED
Tarnawa
Bruce R
BR
Carr
D002292:Carcinoma, Renal Cell / Q000235:genetics*; D018389:Codon, Nonsense; D005260:Female; D005649:Fumarate Hydratase / Q000235:genetics*; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics*; D018231:Leiomyomatosis / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D010375:Pedigree; D014594:Uterine Neoplasms / Q000175:diagnosis / Q000235:genetics*; D055815:Young Adult
D018389:Codon, Nonsense; D005819:Genetic Markers; D005649:Fumarate Hydratase