A Case of Recurrent Multiple Uterine Fibroids Associated with Hereditary Leiomyomatosis and Renal Cell Carcinoma (HLRCC): Insights into Fumarate Hydratase (FH) Deficiency

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a rare genetic disorder caused by mutations in fumarate hydratase (FH) gene. The main manifestations include cutaneous leiomyoma, uterine leiomyoma, and type 2 papillary renal cell carcinoma (PRCC2). This case report is about a 37-year-old patient with multiple uterine leiomyomas. The patient had recurred within a short period after both previous myomectomies. A renal tumor was accidentally detected during a routine examination before the third myomectomy and was confirmed to be advanced RCC associated with HLRCC. The patient was treated with immunization and targeted therapy (Sunitinib and Tislelizumab injection) and subsequently received a robotic radical nephrectomy. Patients with similar conditions might initially present gynecology for uterine fibroids, easily ignored due to their rarity, missing the time window for diagnosing and treating RCC. This case underscores the need for early genetic screening in patients with recurrent uterine leiomyomas suggestive of FH deficiency.