Abstract
Uterine leiomyomas (ULMs) are the most common benign tumors in the female reproductive system, and their occurrence often manifests as familial aggregation. Recent advances in next-generation sequencing (NGS) identify driver gene mutations and genomic alterations in ULMs types, among them fumarate hydratase (FH) encoded by the FH gene, is an enzyme that catalyzes the conversion of fumarate to malate in the Krebs cycle. Germline mutations in FH predispose women to early onset and multiple ULMs. The patient was found to have multiple uterine myomas at the age of 19, underwent laparoscopic myomectomy at the age of 20, and underwent laparotomic myomectomy again at the age of 23 due to the recurrence of uterine myoma. At the age of 25, the patient reappeared with symptoms and recurrence, and was diagnosed with ULMs of FH mutation and high-grade squamous intraepithelial lesion (HSIL/CIN III) with gland involvement, after complete examination. FH mutation screening is important when gynecologists encounter patients with early onset and multiple ULMs, it can give early diagnosis and treatment and fertility guidance.
Key Words: Fumarate hydratase; Gene mutation; Uterine leiomyomas; Hereditary leiomyomatosis and renal cell carcinoma; Reed’s syndrome; Case report