Loss of heterozygosity in adenomyosis on hMSH2, hMLH1, p16(Ink4) and GALT loci

Adenomyosis is a gynecological condition in which tissue histologically sim ilar to that in endometrium is found within the myometrium in the uterus. A lthough, lesions of both adenomyosis and endometriosis are identical to the ir sources with respect to structure and function, they are generally regar ded as separate and distinct nosologic processes. In this study, we used 17 microsatellite markers, in four tetraplex and one single PCR assay, to det ermine the incidence of loss of heterozygosity (LOH) in 31 cases of adenomy osis. The markers used are located close to tumor suppressor genes, DNA rep air genes, and genes which are thought to be involved in endometriosis. Mor eover, the markers were involved in regions frequently lost in ovarian canc er, on chromosomal arms Ip, Iq, 2p, 2q, 3p, 9p, 9q, 17p and 17q. Nine sampl es (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 th e first report, that LOH occurs in adenomyosis. The regional chromosomal lo sses were detectable early during the development of this condition. In add ition, hMSH2, hMLH1, p16(Ink4) and GALT genes were associated for the first time with adenomyosis and its pathogenesis.