Gene expression profiles separate endometriosis lesion subtypes and indicate a sensitivity of endometrioma to estrogen suppressive treatments through elevated ESR2 expression

Cea Soriano L, López-Garcia E, Schulze-Rath R, Garcia Rodríguez LA. Incidence, treatment and recurrence of endometriosis in a UK-based population analysis using data from The Health Improvement Network and the Hospital Episode Statistics database. Eur J Contracept Reprod Health Care. 2017;22(5):334–43.

Article  PubMed  Google Scholar 

Guo SW. Recurrence of endometriosis and its control. Hum Reprod Update. 2009;15(4):441–61.

Article  PubMed  Google Scholar 

Quaas AM, Weedin EA, Hansen KR. On-label and off-label drug use in the treatment of endometriosis. Fertil Steril. 2015;103(3):612–25.

Article  PubMed  Google Scholar 

International working group of AAGL E, ESHRE, WES, Vermeulen N, Abrao MS, Einarsson JI, Horne AW, Johnson NP, Lee TTM, Missmer S, Petrozza J, et al. Endometriosis classification, staging and reporting systems: a review on the road to a universally accepted endometriosis classification†,‡. Hum Reprod Open. 2021;2021(4):hoab025.

Article  Google Scholar 

Chapron C, Pietin-Vialle C, Borghese B, Davy C, Foulot H, Chopin N. Associated ovarian endometrioma is a marker for greater severity of deeply infiltrating endometriosis. Fertil Steril. 2009;92(2):453–7.

Article  PubMed  Google Scholar 

Nirgianakis K, Ma L, McKinnon B, Mueller MD. Recurrence patterns after surgery in patients with different endometriosis subtypes: a long-term hospital-based cohort study. J Clin Med. 2020;9(2):496.

Article  PubMed  PubMed Central  Google Scholar 

Hiissa J, Elo LL, Huhtinen K, Perheentupa A, Poutanen M, Aittokallio T. Resampling reveals sample-level differential expression in clinical genome-wide studies. OMICS. 2009;13(5):381–96.

Article  CAS  PubMed  Google Scholar 

Ferrero S, Barra F, Maggiore ULR. Current and emerging therapeutics for the management of endometriosis. Drugs. 2018;78(10):995–1012.

Article  CAS  PubMed  Google Scholar 

Dunselman GA, Vermeulen N, Becker C, Calhaz-Jorge C, D’Hooghe T, De Bie B, Heikinheimo O, Horne AW, Kiesel L, Nap A, et al. ESHRE guideline: management of women with endometriosis. Hum Reprod. 2014;29(3):400–12.

Article  CAS  PubMed  Google Scholar 

Zakhari A, Delpero E, McKeown S, Tomlinson G, Bougie O, Murji A. Endometriosis recurrence following post-operative hormonal suppression: a systematic review and meta-analysis. Hum Reprod Update. 2021;27(1):96–107.

Article  CAS  PubMed  Google Scholar 

Dunselman GAJ, Vermeulen N, Becker C, Calhaz-Jorge C, D’Hooghe T, De Bie B, Heikinheimo O, Horne AW, Kiesel L, Nap A, et al. ESHRE guideline: management of women with endometriosis †. Hum Reprod. 2014;29(3):400–12.

Article  CAS  PubMed  Google Scholar 

Chantalat E, Valera MC, Vaysse C, Noirrit E, Rusidze M, Weyl A, Vergriete K, Buscail E, Lluel P, Fontaine C, et al. Estrogen receptors and endometriosis. Int J Mol Sci. 2020;21(8):2815.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Colón-Caraballo M, García M, Mendoza A, Flores I. Human endometriosis tissue microarray reveals site-specific expression of estrogen receptors, progesterone receptor, and Ki67. Appl Immunohistochem Mol Morphol. 2019;27(7):491–500.

Article  PubMed  PubMed Central  Google Scholar 

Grandi G, Mueller MD, Papadia A, Kocbek V, Bersinger NA, Petraglia F, Cagnacci A, McKinnon B. Inflammation influences steroid hormone receptors targeted by progestins in endometrial stromal cells from women with endometriosis. J Reprod Immunol. 2016;117:30–8.

Article  CAS  PubMed  Google Scholar 

Grandi G, Mueller M, Bersinger N, Papadia A, Nirgianakis K, Cagnacci A, McKinnon B. Progestin suppressed inflammation and cell viability of tumor necrosis factor-alpha-stimulated endometriotic stromal cells. Am J Reprod Immunol. 2016;76(4):292–8.

Article  CAS  PubMed  Google Scholar 

Grandi G, Toss A, Cortesi L, Botticelli L, Volpe A, Cagnacci A. The association between endometriomas and ovarian cancer: preventive effect of inhibiting ovulation and menstruation during reproductive life. Biomed Res Int. 2015;2015: 751571.

Article  PubMed  PubMed Central  Google Scholar 

Flores VA, Vanhie A, Dang T, Taylor HS. Progesterone receptor status predicts response to progestin therapy in endometriosis. J Clin Endocrinol Metab. 2018;103(12):4561–8.

Article  PubMed  PubMed Central  Google Scholar 

Fung JN, Mortlock S, Girling JE, Holdsworth-Carson SJ, Teh WT, Zhu Z, Lukowski SW, McKinnon BD, McRae A, Yang J, et al. Genetic regulation of disease risk and endometrial gene expression highlights potential target genes for endometriosis and polycystic ovarian syndrome. Sci Rep. 2018;8(1):11424.

Article  PubMed  PubMed Central  Google Scholar 

Gabriel M, Fey V, Heinosalo T, Adhikari P, Rytkönen K, Komulainen T, Huhtinen K, Laajala TD, Siitari H, Virkki A, et al. A relational database to identify differentially expressed genes in the endometrium and endometriosis lesions. Sci Data. 2020;7(1):284.

Article  PubMed  PubMed Central  Google Scholar 

Gabriel M, Poutanen M: Transcriptome analysis of differential gene expression of endometrium, peritoneum and endometriosis lesions. Gene Expression Omnibus. 2019. https://identifiers.org/geo:GSE141549

Noyes RW, Hertig AT, Rock J. Dating the endometrial biopsy. Obstet Gynecol Surv. 1950;5(4):561–4.

Article  Google Scholar 

Mortlock S, Kendarsari RI, Fung JN, Gibson G, Yang F, Restuadi R, Girling JE, Holdsworth-Carson SJ, Teh WT, Lukowski SW, et al. Tissue specific regulation of transcription in endometrium and association with disease. Human reproduction (Oxford, England). 2020;35(2):377–93.

Article  CAS  PubMed  Google Scholar 

Aran D. Cell-type enrichment analysis of bulk transcriptomes using xCell. In: Boegel S, editor. Bioinformatics for Cancer Immunotherapy: Methods and Protocols. New York: Springer US; 2020. p. 263–76.

Chapter  Google Scholar 

Yu G, Wang LG, Han Y, He QY. clusterProfiler: an R package for comparing biological themes among gene clusters. OMICS. 2012;16(5):284–7.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zhang W, Dolan ME. Ancestry-related differences in gene expression: findings may enhance understanding of health disparities between populations. Pharmacogenomics. 2008;9(5):489–92.

Article  PubMed  Google Scholar 

Mortlock S, McKinnon B, Montgomery GW. Genetic regulation of transcription in the endometrium in health and disease. Front Reprod Health. 2021;3: 795464.

Article  PubMed  Google Scholar 

Gibson DA, Simitsidellis I, Collins F, Saunders PTK. Androgens, oestrogens and endometrium: a fine balance between perfection and pathology. J Endocrinol. 2020;246(3):R75–93.

Article  CAS  PubMed  Google Scholar 

Colgrave EM, Bittinger S, Healey M, Dior UP, Rogers PAW, Keast JR, Girling JE, Holdsworth-Carson SJ. Superficial peritoneal endometriotic lesions are histologically diverse and rarely demonstrate menstrual cycle synchronicity with matched eutopic endometrium. Hum Reprod. 2020;35(12):2701–14.

Article  CAS  PubMed  Google Scholar 

Taylor HS, Dun EC, Chwalisz K. Clinical evaluation of the oral gonadotropin-releasing hormone-antagonist elagolix for the management of endometriosis-associated pain. Pain Manag. 2019;9(5):497–515.

Article  PubMed  Google Scholar 

Heinosalo T, Gabriel M, Kallio L, Adhikari P, Huhtinen K, Laajala TD, Kaikkonen E, Mehmood A, Suvitie P, Kujari H, et al. Secreted frizzled-related protein 2 (SFRP2) expression promotes lesion proliferation via canonical WNT signaling and indicates lesion borders in extraovarian endometriosis. Hum Reprod. 2018;33(5):817–31.

Article  CAS  PubMed  Google Scholar 

Huhtinen K, Desai R, Ståhle M, Salminen A, Handelsman DJ, Perheentupa A, Poutanen M. Endometrial and endometriotic concentrations of estrone and estradiol are determined by local metabolism rather than circulating levels. J Clin Endocrinol Metab. 2012;97(11):4228–35.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Vannuccini S, Clemenza S, Rossi M, Petraglia F. Hormonal treatments for endometriosis: the endocrine background. Rev Endocr Metab Disord. 2022;23(3):333–55.

Article  PubMed  Google Scholar 

Vignali M, Pisoni S, Gentilini D, Spada E, Solima E, Viganò P, Candiani M, Busacca M. AM DIB: Hormonal therapy potentiates the effect of surgery on gene expression profile of peripheral blood mononuclear cells in patients affected by endometriosis. Minerva Endocrinol (Torino). 2021;46(1):90–8.

PubMed  Google Scholar 

Yilmaz BD, Bulun SE. Endometriosis and nuclear receptors. Hum Reprod Update. 2019;25(4):473–85.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lindgren PR, Cajander S, Bäckström T, Gustafsson JA, Mäkelä S, Olofsson JI. Estrogen and progesterone receptors in ovarian epithelial tumors. Mol Cell Endocrinol. 2004;221(1–2):97–104.

Article  CAS  PubMed  Google Scholar 

Li AJ, Baldwin RL, Karlan BY. Estrogen and progesterone receptor subtype expression in normal and malignant ovarian epithelial cell cultures. Am J Obstet Gynecol. 2003;189(1):22–7.

Article  CAS  PubMed  Google Scholar 

Matsuzaki S, Murakami T, Uehara S, Canis M, Sasano H, Okamura K. Expression of estrogen receptor alpha and beta in peritoneal and ovarian endometriosis. Fertil Steril. 2001;75(6):1198–205.

Article  CAS  PubMed 

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