Objective: To investigate the clinicopathological features of fumarate hydratase (FH) deficiency uterine leiomyoma. Methods: The data of 38 patients with FH deficiency uterine leiomyoma were screened and analyzed. The expressions of FH, S-(2-succino)-cysteine (2SC), desmin, p16, p53, CD10 and cell proliferation associated nuclear antigen (Ki-67) proteins were detected by immunohistochemistry, and their clinicopathological features were analyzed retrospectively. Results: (1) Clinical features: the median age of the patients was (42.5±7.4) years old. Twenty-one cases (55%) of them were myomas found in physical examination, and the median maximum diameter of the tumor was 6.0 cm (range: 5.0-7.5 cm); myomectomy was performed in 23 cases (61%), total hysterectomy with or without bilateral appendages in 15 cases (39%); laparoscopic surgery in 27 cases (71%), open surgery in 11 cases (29%); none of the patients had renal cell carcinoma. (2) Histological features: atypical nuclear cells were distributed locally or diffusely, eosinophilic nucleoli and intranuclear inclusion bodies could be seen, glass like globules could be seen in the cytoplasm, nuclear division was 0-4/10 high power field (HPF), and antler like blood vessels and pulmonary edema-like changes could be seen in the stroma. Among 38 patients with FH deficiency uterine leiomyoma, FH was negative in 37 cases (97%), and positive in 1 case (3%); 2SC, desmin, p16, p53, CD10 and Ki-67 showed focal positive expression in 38 cases (100%), including 35 cases (92%) with Ki-67 index<10% and 3 cases (8%) with Ki-67 index ≥10%. (3) Follow-up: 4 cases (11%) recurred, and there was no death. There were significant differences in age, family history, distribution of atypical nuclei and mitosis number between recurrent group and non-recurrent group (all P<0.05). Conclusions: FH deficiency uterine leiomyoma is a rare tumor, which needs pathological examination,immunohistochemical examination and clinical history. Patients younger than 43 years old, with family history, histologically atypical diffuse nuclear distribution and mitotic number ≥3/10 HPF should be alert to the risk of recurrence.
目的： 探讨延胡索酸水合酶（FH）缺失型子宫平滑肌瘤的临床病理特征，并分析影响其术后复发的相关因素。 方法： 收集2015年1月至2021年8月福建省16所省、市级医院接受手术治疗的FH缺失型子宫平滑肌瘤患者共38例，采用免疫组化法检测肌瘤组织中FH、2-琥珀酸-半胱氨酸（2SC）、结蛋白（desmin）、p16、p53、CD10、细胞增殖相关核抗原（Ki-67）蛋白的表达；回顾性分析其临床病理特征。38例患者均随访术后复发情况，中位随访时间为24.5个月（6~76个月）；分析影响术后复发的相关因素。 结果： （1）临床特点：38例FH缺失型子宫平滑肌瘤患者的年龄为（42.5±7.4）岁，多数（21例，55%）为体检发现肌瘤，肌瘤最大径为6.0 cm（5.0~7.5 cm）；手术方式：行肌瘤剔除术23例（61%），子宫全切除±双侧附件切除术15例（39%）；手术途径：腹腔镜手术27例（71%），开腹手术11例（29%）；随访期内患者均未发现患有肾细胞癌。（2）病理特征：常规病理检查镜下观，非典型性核细胞呈局灶或弥漫分布，可见嗜酸性核仁及核内包涵体，胞质内见玻璃样小球，核分裂数0~4个/10个高倍镜视野（HPF），间质内见鹿角状血管及肺水肿样改变。免疫组化法检查显示，38例患者中，FH蛋白阴性表达37例（97%），阳性表达1例（3%）；2SC、desmin、p16、p53、CD10、Ki-67阳性表达38例（100%），其中Ki-67指数<10%者35例（92%）、≥10%者3例（8%）。（3）术后复发及其影响因素分析结果：38例患者中，随访期内复发4例，复发率为11%，无死亡患者。年龄、家族肿瘤史、非典型性核分布范围、核分裂数与FH缺失型子宫平滑肌瘤患者术后的复发率均显著相关（P均<0.05）。 结论： FH缺失型子宫平滑肌瘤是罕见肿瘤，其诊断需病理检查、免疫组化法检测并结合临床病史。当患者年龄<43岁、有家族肿瘤史、非典型性核弥漫分布、核分裂数≥3个/10 HPF时，需警惕其复发风险。.