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

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This study investigated loss of heterozygosity in adenomyosis using microsatellite markers, finding LOH in 29% of cases and implicating hMSH2, hMLH1, p16Ink4, and GALT loci in its pathogenesis.

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AI-generated deep summary by claude@2026-06, 2026-06-13 · read from full text

The paper investigated loss of heterozygosity (LOH) patterns in 31 adenomyosis cases using 17 microsatellite markers in multiple PCR assays, targeting regions near DNA repair genes, tumor suppressor genes, and genes previously implicated in endometriosis, as well as chromosomal arms commonly lost in ovarian cancer. Nine of 31 samples (29.0%) showed LOH at one or more loci, with notable imbalance reported at loci 2p22.3-p16.1, 3p24.2-p22, and 9p21. The authors state this is the first report of LOH occurring in adenomyosis and that regional chromosomal losses may be detectable early, while the main limitation is the small sample size and the focus on LOH at selected marker loci. Relevance to endometriosis: the study includes markers located near genes thought to be involved in endometriosis and frames adenomyosis versus endometriosis as related yet distinct processes, even though its main focus is LOH mapping in adenomyosis.

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Abstract

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.
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Print ISSN: 1107-3756 Online ISSN: 1791-244X International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease. International Journal of Oncology is an international journal devoted to oncology research and cancer treatment. Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery. Oncology Reports is an international journal devoted to fundamental and applied research in Oncology. Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine. Oncology Letters is an international journal devoted to Experimental and Clinical Oncology. Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology. International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis. Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology. Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition. Publishes open-access research on using epigenetics to advance understanding and treatment of human disease. An International Open Access Journal Devoted to General Medicine. Article - Authors: - Pages: 667-738|Published online on: December 1, 2000https://doi.org/10.3892/ijmm.6.6.667 - Expand metrics + 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. Copy and paste a formatted citation Spandidos Publications style Goumenou A, Arvanitis D, Matalliotakis I, Koumantakis E and Spandidos D: Loss of heterozygosity in adenomyosis on hMSH2, hMLH1, p16Ink4 and GALT loci.. Int J Mol Med 6: 667-738, 2000. APA Goumenou, A., Arvanitis, D., Matalliotakis, I., Koumantakis, E., & Spandidos, D. (2000). Loss of heterozygosity in adenomyosis on hMSH2, hMLH1, p16Ink4 and GALT loci.. International Journal of Molecular Medicine, 6, 667-738. https://doi.org/10.3892/ijmm.6.6.667 MLA Goumenou, A., Arvanitis, D., Matalliotakis, I., Koumantakis, E., Spandidos, D."Loss of heterozygosity in adenomyosis on hMSH2, hMLH1, p16Ink4 and GALT loci.". International Journal of Molecular Medicine 6.6 (2000): 667-738. Chicago Goumenou, A., Arvanitis, D., Matalliotakis, I., Koumantakis, E., Spandidos, D."Loss of heterozygosity in adenomyosis on hMSH2, hMLH1, p16Ink4 and GALT loci.". International Journal of Molecular Medicine 6, no. 6 (2000): 667-738. https://doi.org/10.3892/ijmm.6.6.667

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Condition tags

endometriosisadenomyosis

MeSH descriptors

DNA-Binding Proteins Endometriosis Loss of Heterozygosity Proteins Adaptor Proteins, Signal Transducing Adult Aged Analysis of Variance Carrier Proteins Cyclin-Dependent Kinase Inhibitor p16 Cyclin-Dependent Kinase Inhibitor p16 DNA DNA Endometriosis Endometriosis Female Humans Microsatellite Repeats Middle Aged MutL Protein Homolog 1

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