Fumarate Hydratase Mutation Associated Uterine Leiomyomas: A Case Report and Literature Review

Overview

Journal Clin Case Rep

Date 2024 Apr 9

PMID 38590329

Authors

Junyan Zhu

Shanji Li

Zhiguo Zhuang

Hao Chen

Chao Chen

Jie Zhu

Affiliations

Soon will be listed here.

Abstract

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 uterine leiomyomas (ULMs) of FH mutation and high-grade squamous intraepithelial lesion (HSIL/CIN III) with gland involvement, after complete examination. Fumarate hydratase (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. The patient had their uterus removed at the age of 26. 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. It is also helpful for early diagnosis of renal cell carcinoma.

Citing Articles

Fumarate hydratase mutation associated uterine leiomyomas: A case report and literature review.

Zhu J, Li S, Zhuang Z, Chen H, Chen C, Zhu J Clin Case Rep. 2024; 12(4):e8526.

PMID: 38590329 PMC: 10999564. DOI: 10.1002/ccr3.8526.

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