Abstract
Uterine leiomyomas are the most common gynecologic benign tumors of the female genital tract that cause a variety of health problems including, abnormal menstrual bleeding, pelvic pain, placenta displacement, premature labor, and miscarriages. Recently, studies showed that recurrent somatic mutations in MED12 exon 2 are the major cause of uterine leiomyomas in different ethnic groups. In order to validate these results in Iranian population, we performed mutational analysis of exon 2 and the flanking intronic regions by using single-strand conformational polymorphism (SSCP) and sequencing analyses in a series of 103 uterine leiomyomas samples. MED12 gene was mutated in 31.07 % of the uterine leiomyomas. Mutations were consisted of 20 missense (62.5 %) and 12 in-frame deletion (37.5 %) mutations and were not detected in normal myometrial tissue. Although this is the lowest mutation frequency reported so far, MED12 mutations are associated with fibroid pathogenesis in the studied population. Understanding the molecular mechanisms responsible for the pathogenesis of uterine leiomyoma will play an important role in designing new therapeutic strategies.
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This study was supported by the Specialized Research Fund from Shahid Beheshti University of Medical Sciences.
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Samaneh Sadeghi and Mandana Khorrami contributed equally to this work.
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Sadeghi, S., Khorrami, M., Amin-Beidokhti, M. et al. The study of MED12 gene mutations in uterine leiomyomas from Iranian patients. Tumor Biol. 37, 1567–1571 (2016). https://doi.org/10.1007/s13277-015-3943-8
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DOI: https://doi.org/10.1007/s13277-015-3943-8