{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T19:32:49Z","timestamp":1790191969349,"version":"4.1.0"},"reference-count":35,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2021,3,29]],"date-time":"2021-03-29T00:00:00Z","timestamp":1616976000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004281","name":"Narodowe Centrum Nauki","doi-asserted-by":"publisher","award":["2013\/09\/B\/NZ5\/00790"],"award-info":[{"award-number":["2013\/09\/B\/NZ5\/00790"]}],"id":[{"id":"10.13039\/501100004281","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004281","name":"Narodowe Centrum Nauki","doi-asserted-by":"publisher","award":["2011\/03\/N\/NZ5\/05899"],"award-info":[{"award-number":["2011\/03\/N\/NZ5\/05899"]}],"id":[{"id":"10.13039\/501100004281","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>Endometriosis is an inflammatory condition manifested by the presence of endometrial-like tissue outside of the uterine cavity. The most common clinical presentations of endometriosis are dysmenorrhea, infertility, and severe pelvic pain. Few hypotheses attempt to explain the pathogenesis of endometriosis; however, none of the theories have been fully confirmed or considered universal. We examined somatic mutations in eutopic endometrium samples, deep endometriotic nodules and peripheral blood from 13 women with deep endometriosis of the rectovaginal space. Somatic variants were identified in laser microdissected samples using next-generation sequencing. A custom panel of 1296 cancer-related genes was employed, and selected genes representing cancer drivers and non-drivers for endometrial and ovarian cancer were thoroughly investigated. All 59 detected somatic variants were of low mutated allele frequency (&lt;10%). In deep ectopic lesions, detected variants were significantly more often located in cancer driver genes, whereas in eutopic endometrium, there was no such distribution. Our results converge with other reports, where cancer-related mutations were found in endometriosis without cancer, particularly recurrent KRAS mutations. Genetic alterations located in ectopic endometriotic nodules could contribute to their formation; nevertheless, to better understand the pathogenesis of this disease, more research in this area must be performed.<\/jats:p>","DOI":"10.3390\/cells10040749","type":"journal-article","created":{"date-parts":[[2021,3,29]],"date-time":"2021-03-29T04:29:14Z","timestamp":1616992154000},"page":"749","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":27,"title":["Epithelial Cells of Deep Infiltrating Endometriosis Harbor Mutations in Cancer Driver Genes"],"prefix":"10.3390","volume":"10","author":[{"given":"Agnieszka","family":"Koppolu","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland"},{"name":"Postgraduate School of Molecular Medicine, Medical University of Warsaw, 02-091 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2584-6734","authenticated-orcid":false,"given":"Rados\u0142aw B.","family":"Maksym","sequence":"additional","affiliation":[{"name":"Department of Reproductive Health, Centre of Postgraduate Medical Education, 01-004 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3051-5446","authenticated-orcid":false,"given":"Wiktor","family":"Paskal","sequence":"additional","affiliation":[{"name":"Centre for Preclinical Research, Department of Methodology, Medical University of Warsaw, 02-091 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcin","family":"Machnicki","sequence":"additional","affiliation":[{"name":"Department of Tumor Biology and Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beata","family":"Rak","sequence":"additional","affiliation":[{"name":"Postgraduate School of Molecular Medicine, Medical University of Warsaw, 02-091 Warsaw, Poland"},{"name":"Centre for Preclinical Research, Department of Methodology, Medical University of Warsaw, 02-091 Warsaw, Poland"},{"name":"Laboratory of Centre for Preclinical Research, Department of Histology and Embryology, Medical University of Warsaw, 02-091 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika","family":"P\u0119pek","sequence":"additional","affiliation":[{"name":"Postgraduate School of Molecular Medicine, Medical University of Warsaw, 02-091 Warsaw, Poland"},{"name":"Department of Tumor Biology and Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5548-1564","authenticated-orcid":false,"given":"Filip","family":"Garbicz","sequence":"additional","affiliation":[{"name":"Postgraduate School of Molecular Medicine, Medical University of Warsaw, 02-091 Warsaw, Poland"},{"name":"Centre for Preclinical Research, Department of Methodology, Medical University of Warsaw, 02-091 Warsaw, Poland"},{"name":"Laboratory of Centre for Preclinical Research, Department of Histology and Embryology, Medical University of Warsaw, 02-091 Warsaw, Poland"},{"name":"Department of Experimental Hematology, Institute of Hematology and Transfusion Medicine, 02-781 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4679-9669","authenticated-orcid":false,"given":"Kacper","family":"Pe\u0142ka","sequence":"additional","affiliation":[{"name":"Centre for Preclinical Research, Department of Methodology, Medical University of Warsaw, 02-091 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zofia","family":"Ku\u015bmierczyk","sequence":"additional","affiliation":[{"name":"Centre for Preclinical Research, Department of Methodology, Medical University of Warsaw, 02-091 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanna","family":"Jacko","sequence":"additional","affiliation":[{"name":"Centre for Preclinical Research, Department of Methodology, Medical University of Warsaw, 02-091 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6969-0535","authenticated-orcid":false,"given":"Ma\u0142gorzata","family":"Rydzanicz","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magdalena","family":"Banach-Or\u0142owska","sequence":"additional","affiliation":[{"name":"Laboratory of Centre for Preclinical Research, Department of Histology and Embryology, Medical University of Warsaw, 02-091 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6918-5056","authenticated-orcid":false,"given":"Tomasz","family":"Stok\u0142osa","sequence":"additional","affiliation":[{"name":"Department of Tumor Biology and Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rafa\u0142","family":"P\u0142oski","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5371-8476","authenticated-orcid":false,"given":"Jacek","family":"Malejczyk","sequence":"additional","affiliation":[{"name":"Laboratory of Centre for Preclinical Research, Department of Histology and Embryology, Medical University of Warsaw, 02-091 Warsaw, Poland"},{"name":"Laboratory for Experimental Immunology, Military Institute of Hygiene and Epidemiology, 01-163 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0683-1791","authenticated-orcid":false,"given":"Pawe\u0142 K.","family":"W\u0142odarski","sequence":"additional","affiliation":[{"name":"Centre for Preclinical Research, Department of Methodology, Medical University of Warsaw, 02-091 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,3,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1016\/S0015-0282(16)48430-X","article-title":"Revised American Fertility Society classification of endometriosis: 1985","volume":"43","author":"Andrews","year":"1985","journal-title":"Fertil. 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Primers"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"2708","DOI":"10.1212\/WNL.43.12.2708","article-title":"A case of cerebral endometriosis causing catamenial epilepsy","volume":"43","author":"Ichida","year":"1993","journal-title":"Neurology"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"609","DOI":"10.3171\/jns.1987.66.4.0609","article-title":"Cerebral endometriosis. Case report","volume":"66","author":"Thibodeau","year":"1987","journal-title":"J. Neurosurg."},{"key":"ref_7","first-page":"87","article-title":"Clinical Assessment of Fourteen Cases of Thoracic Endometriosis","volume":"72","author":"Ishibashi","year":"2019","journal-title":"Kyobu. Geka."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"573","DOI":"10.12659\/AJCR.907964","article-title":"A Case of Thoracic Endometriosis Syndrome Presenting with Recurrent Catamenial Pneumothorax","volume":"19","author":"Junejo","year":"2018","journal-title":"Am. J. 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