Loss of heterozygosity in adenomyosis on hMSH2, hMLH1, p16Ink4 and GALT loci.
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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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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Cited by (29)
- Synchronous serous carcinoma arising in adenomyosis and small cell carcinoma of ovary-pulmonary type (SCCOPT): a case report and literature review 2022
- Uterine Embolization as a New Treatment Option in Adenomyosis Uteri 2022
- Synchronous serous carcinoma arising in adenomyosis and small cell carcinoma of ovary - pulmonary type (SCOOPT): a case report and literature review 2022
- Transcriptomic analysis supports collective endometrial cell migration in the pathogenesis of adenomyosis 2022
- Endometriosis - Recent Advances, New Perspectives and Treatments 2021
- The clinicopathological characteristics and survival outcomes of endometrial carcinoma coexisting with or arising in adenomyosis: A pilot study 2020
- Cancer driver mutations in endometriosis: Variations on the major theme of fibrogenesis 2018
- Malignant transformation of adenomyosis: literature review and meta-analysis 2018
- The assessment of GWAS — identified polymorphisms associated with infertility risk in Polish women with endometriosis 2018
- Co‑existence of benign gynecological tumors with endometriosis in a group of 1,000 women 2017
- Molecular Characteristics of the Endometrium in Uterine Adenomyosis and Its Biochemical Microenvironment 2017
- Female Genomics: Infertility and Overall Health 2017
- Beyond Endometriosis Genome-Wide Association Study: From Genomics to Phenomics to the Patient 2016
- The Pathophysiology of Adenomyosis 2015
- Tumor Characteristics and Survival Outcome of Endometrial Cancer Arising in Adenomyosis: An Exploratory Analysis 2015
- Genetic variants underlying risk of endometriosis: insights from meta-analysis of eight genome-wide association and replication datasets 2014
- Pathogenesis and malignant transformation of adenomyosis (Review) 2012
- Genome-wide association meta-analysis identifies new endometriosis risk loci 2012
- Insights into Assessing the Genetics of Endometriosis 2012
- Cinética celular na endometriose profunda infiltrativa de reto-sigmoide: estudo anátomo-clínico 2011
- Advances in the genetics of endometriosis 2010
- A genome-wide association study identifies genetic variants in the CDKN2BAS locus associated with endometriosis in Japanese 2010
- XRCC4 codon 247*A and XRCC4 promoter −1394*T related genotypes but not XRCC4 intron 3 gene polymorphism are associated with higher susceptibility for endometriosis 2008
- Expression of Human Endogenous Gammaretroviral Sequences in Endometriosis and Ovarian Cancer 2006
- Adenomyosis: the pathophysiology of an oestrogen-dependent disease 2006
- Nuclear Factor-κB (NF-κB): An Unsuspected Major Culprit in the Pathogenesis of Endometriosis That Is Still at Large? 2006
- Endometriosis: New Genetic Approaches and Therapy 2005
- Évolutions physiopathologiques, diagnostiques et thérapeutiques dans la prise en charge de l’adénomyose : revue de la littérature 2004
- Improved Sonographic Accuracy in the Presurgical Diagnosis of Diffuse Adenomyosis 2002
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