现代妇产科进展2025，Vol.34Issue(7)：493-497,5.DOI:10.13283/j.cnki.xdfckjz.2025.07.003
延胡索酸水合酶缺陷型子宫平滑肌瘤的临床特点
The clinical characteristics of fumarate hydrase-deficient uterine leiomyomas
黄家佳 1申毓婷 1史文佩 2陈晓悦1
作者信息
- 1. 同济大学附属妇产科医院妇产科,上海 200092
- 2. 同济大学附属妇产科医院临床医学研究中心,上海 200092
- 折叠
摘要
Abstract
Objective:To explore the clinical characteristics of fumarate hydrase-defi-cient(FHd)uterine leiomyomas.Methods:The data of 47 cases of FHd fibroids admitted to Obstetrics and Gynecology Hospital of Tongji University from January 2022 to March 2024 were collected.All cases were positive for S-(2-succinyl)-cysteine(2SC).Meanwhile,47 cases of multiple fibroids and 145 patients with cellular leiomyomas were selected as controls.Fumarate hydrase(FH)staining was positive in both control groups.The clinical data,previous surgical history,response to preoperative pretreatment with gonadotropin-releasing hormone agonist(Gn-RH-a),and intraoperative conditions of the three groups were compared.Result:The clinical manifestations of FHd fibroids lack specificity.Patients may present with fibroid compression symptoms,but increased menstrual flow is rare compared to multiple fibroids,suggesting that it is difficult to distinguish FHd fibroids from other types of fibroids merely based on symptoms.Intraoperative bleeding in FHd fibroids is more common than that in multiple fibroids or cellular leiomyomas.Preoperative use of GnRH-a may be effective in shrinking FHd fibroids,but the current sample size is limited and further large-sample studies are needed.Recurrence of FHd fibroids may require multiple surgeries,and the intervals between surgeries are relatively short.Conclusions:The clinical features,treatment responses and prognostic characteristics of FHd fi-broids still need further study.The genotyping of uterine fibroids may play a guiding role in sur-gical or drug treatment.关键词
延胡索酸水合酶缺陷型子宫平滑肌瘤/促性腺激素释放激素激动剂/多发肌瘤/富细胞性平滑肌瘤Key words
Fumarate hydrase-deficient uterine leiomyomas/Gonadotropin-releasing hormone agonist/Multiple fibroids/Cellular leiomyomas分类
医药卫生引用本文复制引用
黄家佳,申毓婷,史文佩,陈晓悦..延胡索酸水合酶缺陷型子宫平滑肌瘤的临床特点[J].现代妇产科进展,2025,34(7):493-497,5.
