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.

CASE: 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.

CONCLUSION

Fumarate hydratase gene mutations should be considered in women presenting with leiomyomas and a family history of renal cancer.