Giant uterine fibroids with chromosome 22 monosomy. A clinical case

Abstract

We present a clinical case of giant uterine fibroids in this research, with the peculiarity of surgical treatment and the course of the postoperative period described. A series of genetic studies specific to uterine fibroids was performed, namely, mutations in the MED12 gene, overexpression of the HMGA2 gene, and chromosomal imbalance. We did not detect mutations of exon 2 of the MED12 gene and an increase in the expression of the HMGA2 gene in the patient’s myomatous node sample. The molecular karyotype arr(22)×1 (chromosome 22 monosomy) was established by comparative genomic hybridization in the tissue of giant uterine fibroids.

Keywords

giant uterine fibroids / MED 12 gene / HMGA2 gene / chromosome 22 monosomy

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