820 A germline mutation of fumarate hydratase in a case with multiple cutaneous leiomyomas, leading to the diagnosis of hereditary leiomyomatosis and renal cell cancer

A 60-year-old Japanese woman presented to our hospital with more than 10 cutaneous tumors intermittent pain on her both arms. The first appeared five years before. They gradually increased in number and size the past two years, getting painful touch. Multiple firm dark-brown papules nodules ranging from 0.5 2 cm were arranged patient received total hysterectomy because of multiple uterine fibroids about 30 Her family history was not remarkable. Four removed by surgery. Histologically, bundles spindle cells, which positive forα-SMA negative for S-100, dermis all samples. She diagnosed leiomyomas. Past suggested possibility hereditary leiomyomatosis renal cell cancer (HLRCC). germline mutation fumarate hydratase (FH) is reported cause disease. In this case, genetic test revealed mutations FH gene chromosome 1 (c.1237-14_1237-13del c.290G>A; p.Gly97Asp). Taken together, we case as HLRCC. Examination computed tomography ultrasound imaging no kidney. Development will be closely monitored future. Although HLRCC a syndrome, does have any history, suggesting de novo mutation. summary, leiomyomas urine fibroids, who finally Genetic examination important reach correct diagnosis detect at its early stage.