33 例延胡索酸水合酶缺陷型子宫 平滑肌瘤临床及病理特点分析

Clinical and Pathological Characteristics Analysis of 33 Cases of Fumarate Hydratase-deficient Uterine Leiomyoma

摘要:

〔摘 要〕 目的：探讨福州地区 33 例延胡索酸水合酶（FH）缺陷型子宫平滑肌瘤的临床及病理特点。 方法：回顾 性分析 2018 年 1 月至 2022 年 4 月期间福建省立医院本部及南院收治的 33 例 FH 缺陷型子宫平滑肌瘤患者的临床资料， 另选取普通子宫平滑肌瘤患者 64 例，比较及分析 33 例 FH 缺陷型子宫平滑肌瘤的形态学、免疫组织化学、遗传学检 测结果等临床特点。 结果：FH 缺陷型子宫平滑肌瘤患者合并肾脏肿物发生率为 24.24 %，高于普通子宫平滑肌瘤患 者的 6.25 %，FH 阴性率、2– 琥珀酸 – 半胱氨酸（2SC）阳性率高于普通子宫平滑肌瘤患者，肌动蛋白（Actin）（SM） 强阳性、肌肉组织肿瘤表达的结蛋白（Desmin）中 / 强阳性、CD10 弱阳性、平滑肌和肌上皮细胞（H–caldesmon）强 阳性率低于普通子宫平滑肌瘤患者，差异均具有统计学意义（P ＜ 0.05）。所有 FH 缺陷型子宫平滑肌瘤患者随访至 2022 年 5 月均存活，1 例复发，肌瘤细胞无转移。 结论：FH 缺陷型子宫平滑肌瘤相较于普通子宫平滑肌瘤具有独特 的形态学、免疫表型病理特点，早期遗传咨询和筛查、FH 检测对该病的诊断尤其重要。

Abstract:

〔Abstract〕 Objective To investigate the clinical and pathological characteristics of 33 cases of fumarate hydratase (FH)-deficient uterine leiomyoma in Fuzhou area. Methods A total of 33 patients with FH-deficient uterine leiomyoma admitted to Fujian Provincial Hospital and South Branch from January 2018 to April 2022 were retrospectively analyzed. Another 64 patients with common uterine leiomyoma were selected, and the morphological, immunohistochemical, genetic and other clinical characteristics of 33 patients with FH-deficient uterine leiomyoma were compared and analyzed. Results The incidence of renal mass in patients with FH-deficient uterine leiomyoma was 24.24 %, higher than 6.25 % in patients with common uterine leiomyoma. FH-negative rate and 2-succino-cysteine (2SC) positive rate were higher than those in patients with common uterine leiomyoma. The strong positive rate of (Actin) (SM), medium/strong positive rate of Desmin expressed by muscle tissue tumors, weak positive rate of CD10, and strong positive rate of smooth muscle and myoepithelial cells (H-caldesmon) were lower than those of normal uterine leiomyoma patients, and the differences were statistically significant (P < 0.05). All patients with FH-deficient uterine leiomyoma survived until May 2022, and 1 patient relapsed without metastasis of fibroid cells. Conclusion FH-deficient uterine leiomyomas have unique morphological characteristics, immunophenotype and pathological characteristics, and early genetic counseling and screening, and FH detection are particularly important.