MED12 exon 2 mutations in uterine leiomyoma’s in women patients of Tehran Province of Iran

Abstract

Uterine leiomyomas or fibroids are benign smooth muscle tumors of myometrial origin; frequently found in reproductive age women. Uterine leiomyomas commonly cause significant symptoms such as anemia resulting from heavy irregular uterine bleeding, Pelvic discomfort, and bowel/bladder dysfunction from pressure. Fibroids have also been associated with infertility and recurrent abortion. Somatic mutations in MED12 exon 2 have recently been reported in uterine leiomyomas. The aim of our study was to see whether MED12 exon 2 mutations occur in uterine leiomyomas of women patients of Tehran Province of Iran. Mutations in exon 2 of the MED12 gene have been reported in 50% to 70% of uterine leiomyomas. To determine the frequency of MED12 mutations in various types of smooth muscle tumors as well as normal uterine myometrium adjacent to a leiomyoma, we selected a total of 23 cases for analysis of MED12 exon 2 mutations by polymerase chain reaction and Sanger sequencing. We found that 65℅ of classical uterine leiomyomas harbored mutations in exon 2 of the MED12 gene. Twelve of these mutations were located in codon 44 (c.130-132). In addition, one fibroids 0/43% displayed a missense mutation in codon 36 (c.107).We also observed two (0/86) exonic deletion type.