Case report: Uterine Leiomyoma with Fumarate Hydratase Deficiency Provisionally Accepted

Diana Buzinskiene^{1, 2} Dominyka Grinciūtė^1* Mindaugas Šilkūnas^{1, 2} Evelina Šidlovska³

• ¹Faculty of Medicine, Vilnius University, Lithuania
• ²Clinic of Obstetrics and Gynaecology, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, Lithuania
• ³National Center of Pathology, Vilnius University Hospital Santaros Clinics, Lithuania

Hereditary leiomyomatosis and renal cell cancer syndrome is a rare autosomal dominant disease caused by mutations in the fumarate hydratase gene. The syndrome is characterized by skin leiomyomatosis, uterine leiomyomatosis, and renal cell carcinoma. Herein, we report a case of fumarate hydratase deficient leiomyoma. The patient was a young female presenting with large uterine leiomyoma and multiple kidney angiomyolipomas. The report presents the chosen treatment and the challenges of differential diagnosis.