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.
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a tumor susceptibility syndrome characterized by renal cell malignancies and benign leiomyomata of the skin and uterus. It is an autosomal dominant disorder caused by germline mutations in the fumarate hydratase (FH) gene. Since its first description in 2001, >100 families have been identified.
Case Report
A 27-year-old woman, gravida 0, presented to her obstetrician-gynecologist after noting a painless mass in the left lower quadrant of her abdomen. Magnetic resonance imaging (MRI) revealed multifocal uterine leiomyomata. Over the course of 1 year, the patient noted abdominal bloating, back pain, and menorrhagia. She subsequently underwent an abdominal myomectomy for symptomatic relief. One year later, she noted a small cluster of painful, elevated, tan papules over her right scapula ( Figure 1 ). A biopsy of a single lesion by her dermatologist demonstrated pilar type leiomyomata. The patient was told that this is a benign condition that did not require further follow-up.
During the next year, she noted a return in abdominal bloating, back pain, and menorrhagia. A repeat MRI demonstrated multiple new leiomyomata. A second abdominal myomectomy was conducted and a third the following year after symptoms and leiomyomata returned. Four years after her last surgery, a dermatologist noted additional clusters of leiomyomata on her right and left upper back. Based on her history of uterine and cutaneous leiomyomata, she was referred to the National Cancer Institute (NCI) and found to have a mutation in FH (specific mutation not made available by NCI as these data are reserved for research purposes).
Further questioning revealed a family history consistent with the HLRCC syndrome. The patient’s brother is FH mutation positive and has cutaneous leiomyomata. Another brother, without FH mutation testing, has cutaneous leiomyomata. Her mother underwent hysterectomy for symptomatic leiomyomata (first diagnosed at age 35 years) and died from metastatic renal cell cancer (RCC) at age 40 years, prior to FH testing. Her maternal uncle is 65 years old, FH mutation positive, and asymptomatic. Her other maternal uncle is FH mutation positive and has bilateral RCC diagnosed at age 69 years. Her maternal grandmother underwent hysterectomy for multiple uterine leiomyomata and died from RCC at age 65 years ( Figure 2 ).
