[The loss of heterozygosity and microsatellite instability analysis in differential diagnostics of leiomyosarcoma and proliferative leiomyoma of the uterus]

Abstract

Uterine leiomyosarcoma (ULMS) is rare and highly malignant smooth muscle tumor. The different diagnosis between uterine leiomyoma with high proliferative index (ULM) and ULMS is one of the basic problems in the pathology for nowadays. We had investigated the loss of heterozygosity (LOH) and microsatellite instability (MI) to find out a genetic differences between ULM and ULMS. The inicrosatellite analysis was evaluated by PCR using 6 polymorphic markers for chromosomal regions 10q22.1 (D10S1146, D010S218), 10q26.13 (D10S1213), 10p13 (D10S24), 9p21.3 (D9S942), 3p14.3 (D3S1295) in 20 patients with ULMS. 38 patients with ULM were suggested as control group. Our results have demonstrated high frequency allelic imbalance in ULMS samples (average frequency 40%). The comparative analysis between 2 studied groups of patients has been shown higher frequencies of genetic changes for ULMS. Specificity and sensitivity of the LOH and/or MI markers scores 92 and 95% accordingly.