Multiple Mutations in Exon-2 of Med-12 Identified in Uterine Leiomyomata.

BACKGROUND: Uterine leiomyomata (UL), commonly known as uterine fibroids, are benign smooth muscle tumors of the myometrium. They cause pelvic pain, abnormal uterine bleeding, and infertility in women of reproductive age. The ovarian hormone estrogen is the main stimulator for the fibroid growth. The etiology is not yet clearly understood; however, UL are believed to be monoclonal tumors arising from a common progenitor cell. Chromosomal cytogenetic abnormalities have been demonstrated in 40-50% of the fibroids. The most frequent tumor specific genetic alterations in UL were identified in exon-2 of Mediator Complex Subunit 12 (MED-12). METHODS: In the present study, twenty-two multiple fibroids were evaluated both from the same uterus and from different uteri, of four women, for somatic mutations in hotspot region of MED-12. The tissue DNA of the UL's was isolated, amplified by PCR visualized on gel and sent for Sanger sequencing. RESULTS: The results indicate several variants in exon-2 and flanking intronic regions, seven exonic variants and five intronic variants which provide evidence that multiple UL in the same uterus may not be clonal in origin. CONCLUSION: This study indicates genetic heterogeneity. UL may not have a clonal origin, these exon-2 variants of MED-12 gene could be involved in UL progression.

Novel Minimally Invasive Technique of Neovaginoplasty Using an Absorbable Adhesion Barrier.

Our objective was to provide a minimally invasive neovaginoplasty technique to construct a nearly physiologic vagina to facilitate sexual functioning and appropriate vaginal length in patients with congenital vaginal agenesis. This retrospective study at a tertiary care hospital comprised 52 patients with congenital vaginal agenesis because of Mayer-Rokitansky-Küster-Hauser syndrome or androgen insensitivity syndrome presented for vaginal reconstruction. Modified McIndoe vaginoplasty was done in all patients between 2010 and 2018 using a vaginal mold created with glove, nonadherent petroleum gauze, and Interceed absorbable adhesion barrier (Ethicon, Johnson & Johnson, Somerville, NJ) that was placed in the neovagina space created between the bladder and rectum for 7 days. Operative details, complications, length and width of the neovagina, and functional outcome were evaluated. The mean operation time was 35 minutes. The mean length of the constructed neovagina was 8.4 cm × 3.4 cm at 6 weeks follow-up. Epithelialization was completed by 4 to 6 months. All patients reported satisfactory sexual activity with no pain and good mucosal sensitivity. This modified neovaginoplasty technique is easy to perform, involves painless postoperative dilatations as the cornerstone of treatment, and results in adequate secretion, allowing lubrication and acceptable physiologic results.