Epithelial Cells of Deep Infiltrating Endometriosis Harbor Mutations in Cancer Driver Genes

Author:

Koppolu Agnieszka,Maksym Radosław B.ORCID,Paskal WiktorORCID,Machnicki Marcin,Rak Beata,Pępek Monika,Garbicz FilipORCID,Pełka KacperORCID,Kuśmierczyk Zofia,Jacko Joanna,Rydzanicz MałgorzataORCID,Banach-Orłowska Magdalena,Stokłosa TomaszORCID,Płoski Rafał,Malejczyk JacekORCID,Włodarski Paweł K.ORCID

Abstract

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.

Funder

Narodowe Centrum Nauki

Publisher

MDPI AG

Subject

General Medicine

Cited by 9 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Genomic Insults and their Redressal in the Eutopic Endometrium of Women with Endometriosis;Reproductive Medicine;2023-04-15

2. New concepts on the etiology of endometriosis;Journal of Obstetrics and Gynaecology Research;2023-02-06

3. Genetics and genomics of endometriosis☆;Human Reproductive and Prenatal Genetics;2023

4. Automated segmentation of endometriosis using transfer learning technique;F1000Research;2022-10-24

5. Rhein inhibits endometriosis by targeting microRNA-135;Acta Biochimica Polonica;2022-08-31

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3