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