| Abstract [eng] |
Hereditary leiomyomatosis and renal cell carcinoma is an autosomal dominant syndrome caused by a germline mutation in the fumarate hydratase gene, resulting in fumarate hydratase enzyme deficiency. The syndrome manifests as a triad of symptoms – cutaneous and uterine leiomyomatosis, and renal cell carcinoma. Leiomyomas associated with the syndrome are typically large, multiple, and symptomatic. The exact prevalence of the syndrome is unknown, but according to recent data, approximately 1 in 1000 individuals may have a mutated gene. Upon detecting the loss of fumarate hydratase, urgent further examination of the patient is necessary, as the risk of developing renal cell carcinoma until the age of 85 reaches 21%. Additionally, syndromic renal cell carcinoma is characterized by high aggressiveness and an early onset. This study discusses a 29-year-old patient who came for a gynecological consultation due to a large uterine leiomyoma. According to the patient’s medical history, she has multiple kidney angiomyolipomas. A laparotomic myomectomy was performed to remove uterine leiomyoma. Based on histological examination of the tumor, leiomyomatoma with fumarate hydratase deficiency was identified. Suspecting the syndrome of hereditary leiomyomatosis and renal cell carcinoma, an oncogeneticist’s consultation was recommended, and oncogenetic tests were conducted utilizing next-generation sequencing. No pathogenic mutations in the fumarate-hydratase gene were identified. |
