Loss of heterozygosity in adenomyosis on hMSH2, hMLH1, p16Ink4 and GALT loci.

Adenomyosis is a gynecological condition in which tissue histologically similar to that in endometrium is found within the myometrium in the uterus. Although, lesions of both adenomyosis and endometriosis are identical to their sources with respect to structure and function, they are generally regarded as separate and distinct nosologic processes. In this study, we used 17 microsatellite markers, in four tetraplex and one single PCR assay, to determine the incidence of loss of heterozygosity (LOH) in 31 cases of adenomyosis. The markers used are located close to tumor suppressor genes, DNA repair genes, and genes which are thought to be involved in endometriosis. Moreover, the markers were involved in regions frequently lost in ovarian cancer, on chromosomal arms 1p, 1q, 2p, 2q, 3p, 9p, 9q, 17p and 17q. Nine samples (29.0%) showed LOH in at least one locus. Loci 2p22.3-p16.1, 3p24.2-p22 and 9p21 exhibited imbalance (19.4%, 9.7% and 6.5% respectively). This is the first report, that LOH occurs in adenomyosis. The regional chromosomal losses were detectable early during the development of this condition. In addition, hMSH2, hMLH1, p16Ink4 and GALT genes were associated for the first time with adenomyosis and its pathogenesis.