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Epithelial Cells of Deep Infiltrating Endometriosis Harbor Mutations in Cancer Driver Genes
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 endomet...
Autores principales: | , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8065889/ https://www.ncbi.nlm.nih.gov/pubmed/33805315 http://dx.doi.org/10.3390/cells10040749 |
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author | Koppolu, Agnieszka Maksym, Radosław B. Paskal, Wiktor Machnicki, Marcin Rak, Beata Pępek, Monika Garbicz, Filip Pełka, Kacper Kuśmierczyk, Zofia Jacko, Joanna Rydzanicz, Małgorzata Banach-Orłowska, Magdalena Stokłosa, Tomasz Płoski, Rafał Malejczyk, Jacek Włodarski, Paweł K. |
author_facet | Koppolu, Agnieszka Maksym, Radosław B. Paskal, Wiktor Machnicki, Marcin Rak, Beata Pępek, Monika Garbicz, Filip Pełka, Kacper Kuśmierczyk, Zofia Jacko, Joanna Rydzanicz, Małgorzata Banach-Orłowska, Magdalena Stokłosa, Tomasz Płoski, Rafał Malejczyk, Jacek Włodarski, Paweł K. |
author_sort | Koppolu, Agnieszka |
collection | PubMed |
description | 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 (<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. |
format | Online Article Text |
id | pubmed-8065889 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-80658892021-04-25 Epithelial Cells of Deep Infiltrating Endometriosis Harbor Mutations in Cancer Driver Genes Koppolu, Agnieszka Maksym, Radosław B. Paskal, Wiktor Machnicki, Marcin Rak, Beata Pępek, Monika Garbicz, Filip Pełka, Kacper Kuśmierczyk, Zofia Jacko, Joanna Rydzanicz, Małgorzata Banach-Orłowska, Magdalena Stokłosa, Tomasz Płoski, Rafał Malejczyk, Jacek Włodarski, Paweł K. Cells Article 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 (<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. MDPI 2021-03-29 /pmc/articles/PMC8065889/ /pubmed/33805315 http://dx.doi.org/10.3390/cells10040749 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) ). |
spellingShingle | Article Koppolu, Agnieszka Maksym, Radosław B. Paskal, Wiktor Machnicki, Marcin Rak, Beata Pępek, Monika Garbicz, Filip Pełka, Kacper Kuśmierczyk, Zofia Jacko, Joanna Rydzanicz, Małgorzata Banach-Orłowska, Magdalena Stokłosa, Tomasz Płoski, Rafał Malejczyk, Jacek Włodarski, Paweł K. Epithelial Cells of Deep Infiltrating Endometriosis Harbor Mutations in Cancer Driver Genes |
title | Epithelial Cells of Deep Infiltrating Endometriosis Harbor Mutations in Cancer Driver Genes |
title_full | Epithelial Cells of Deep Infiltrating Endometriosis Harbor Mutations in Cancer Driver Genes |
title_fullStr | Epithelial Cells of Deep Infiltrating Endometriosis Harbor Mutations in Cancer Driver Genes |
title_full_unstemmed | Epithelial Cells of Deep Infiltrating Endometriosis Harbor Mutations in Cancer Driver Genes |
title_short | Epithelial Cells of Deep Infiltrating Endometriosis Harbor Mutations in Cancer Driver Genes |
title_sort | epithelial cells of deep infiltrating endometriosis harbor mutations in cancer driver genes |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8065889/ https://www.ncbi.nlm.nih.gov/pubmed/33805315 http://dx.doi.org/10.3390/cells10040749 |
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