Clinicopathological features and gene phenotypes of benign metastasizing leiomyoma
10.3760/cma.j.cn112151-20191030-00702
- VernacularTitle:良性转移性平滑肌瘤的病理学特征及基因表型分析
- Author:
Shasha HU
1
;
Lili WANG
;
Han ZHAO
;
Guangqi LI
;
Xiaobin JI
;
Fangjie XIN
;
Jigang WANG
Author Information
1. 青岛大学附属医院病理科 266555
- Keywords:
Leiomyoma;
Immunohistochemistry;
Phenotype;
MED12
- From:
Chinese Journal of Pathology
2020;49(7):704-709
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To study the clinicopathological features, immunophenotypes and MED12 gene status in benign metastasizing leiomyoma (BML).Methods:Nine cases of BML diagnosed at the Affiliated Hospital of Qingdao University from 2012 to 2018 were collected, and the radiologic and histologic features were analyzed. The protein expression of leiomyosarcoma-related driver genes, including RB1, PTEN,ATRX,p16,p53, as well as ER,PR,CD34,FH, and Ki-67 were detected using immunohistochemistry, and the mutation status of MED12 gene exon 2 was detected by Sanger sequencing.Results:All the nine patients with BML were female, and the age range was 48 to 64 years (median 55 years). All patients had history of uterine fibroids. The morphologic features of BML were similar to a benign uterine leiomyoma and did not exhibit malignant characteristics. All cases were positive for ER and PR, and negative for CD34. In addition, RB1, PTEN, ATRX, and FH were positive in all cases (wild type), while p16 showed a focally positive pattern. P53 positive index was less than 5% (wild type), and Ki-67 positive index was less than 1%. Sanger sequencing was done in six BML samples; one sample harbored a nonsense mutation c. 142_144delinsTAA (p.Glu48Ter), and another exhibited a synonymy mutation (c.192C>T, p.Phe64=)and one missense mutation c.196C>T (p.Pro66Ser).Conclusions:The present study suggests that BML is a unique leiomyoma entity that is pathologically and genetically different from leiomyosarcomas and conventional uterine leiomyomas. Evaluating the genetic phenotype of BML, especially the expression of leiomyosarcoma-related driver genes protein and MED12 gene status, may be helpful in understanding the pathogenesis of BML and in its differentiation from leiomyosarcoma.
