延胡索酸水合酶缺陷型子宫平滑肌瘤1例并文献复习

A Case of Fumarate Hydratase-Deficient Uterine Leiomyoma and Literature Review

摘要: 子宫肌瘤是女性最常见的生殖器官良性肿瘤，其中延胡索酸水合酶(fumarate hydratase, FH)缺陷型子宫平滑肌瘤是其中一种罕见的特殊类型，系FH基因发生体系或胚系突变所致。FH基因胚系突变与遗传性子宫平滑肌瘤病和肾细胞癌(hereditary leiomyomatosis and renal cell carcinoma, HLRCC)综合征密切相关，子宫肌瘤常为HLRCC综合征的前哨表现，其发病年龄较早、肌瘤生长速度快、常为多发且易复发，患者常需多次手术，给育龄期女性带来极大困扰及生育力的损害。HLRCC综合征的肾癌恶性程度高，临床预后差。因此本文对1例FH缺陷型子宫平滑肌瘤病的患者进行病例回顾及相关文献复习，以期提高临床医师对该疾病的认识，实现早期诊断，改善患者整体预后。

Abstract: Uterine myoma represent the most common benign tumors of the female reproductive organs. Among these, fumarate hydratase (FH)-deficient uterine leiomyoma constitutes a rare subtype caused by somatic or germline mutation in the FH gene. Germline FH mutation are closely associated with hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome, where uterine myoma frequently serves as the sentinel manifestation. These cases typically present with earlier onset age, rapid growth rate, multiple lesions, and high recurrence risk, often necessitating frequent surgical interventions that significantly impact reproductive-aged women through compromised fertility. Notably, HLRCC-associated renal carcinoma demonstrates highly aggressive behavior and poor clinical prognosis. This article presents a case review of FH-deficient uterine leiomyomatosis accompanied by literature analysis, aiming to enhance clinical awareness of this disorder, facilitate early diagnosis, and ultimately improve patients’ overall prognosis.