Multicenter retrospective study of 38 cases with fumarate hydratase deficiency uterine leiomyoma
10.3760/cma.j.cn112141-20220312-00148
- VernacularTitle:延胡索酸水合酶缺失型子宫平滑肌瘤38例患者的多中心回顾性研究
- Author:
Xiyao YAN
1
;
Jianlong LIN
;
Ruihua TIAN
;
Xiuqing WENG
;
Li WANG
;
Zongkai ZOU
;
Xinhua LI
;
Xiandong LIN
;
Gang CHEN
;
Dan HU
Author Information
1. 福建医科大学附属肿瘤医院 福建省肿瘤医院病理科，福州 350014
- Keywords:
Uterine neoplasms;
Smooth muscle tumor;
Fumarate hydratase;
Cysteine;
Immunohistochemistry;
Retrospective studies
- From:
Chinese Journal of Obstetrics and Gynecology
2022;57(6):435-441
- CountryChina
- Language:Chinese
-
Abstract:
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, CD 10 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, CD 10 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.
