Variation of chromosome 1 genetic imbalance in non-cultured uterine leiomyoma cells

Introduction: The study of genetic imbalance in uterine leiomyoma cells is important for understanding of the disease pathogenesis. Purpose: To study the spectrum of chromosome 1 aberrations and their frequency in non-cultured uterine leiomyoma cells depending on the presence or absence of MED12 mutations. Materials and Methods: The study was performed on 4 samples from large uterine leiomyomas (d = 7-20 cm). The spectrum of chromosome 1 aberrations was revealed by aCGH. The frequency of cells containing chromosome 1 aberrations was determined by FISH using DNA probes for 1pTEL, 1p36, 1q25. The detection of MED12 mutations in exon 2 and adjacent introns was performed by PCR-direct sequencing. Results: The chromosome 1 genetic imbalance was detected in all studied samples. No MED12 mutations were revealed in either sample. The spectrum of chromosome 1 aberrations included both deletions and duplications and was similar in all tumors. However, the cell subpopulations with different aberrations were present to different degrees among samples. In all uterine leiomyomas, cells with chromosome 1 aberrations were present by minor subpopulations, whereas cells with two copies of chromosome 1 represented major subpopulations. Conclusions: Chromosome 1 genetic imbalance is typical for uterine leiomyoma. The detected aberrations, most likely, are not leiomyoma triggers, but may have significance for tumor growth.

миома матки, генетический дисбаланс по хромосоме 1, субпопуляции клеток, aCGH, FISH, мутации гена MED12, uterine leiomyoma, chromosome 1 genetic imbalance, cell subpopulations, aCGH, FISH, MED12 mutations

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