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.