A cellular and molecular portrait of endometriosis subtypes

Marcos A. Fonseca, Kelly N. Wright, Xianzhi Lin, Forough Abbasi, Marcela Haro, Jennifer K. Sun, Lourdes Hernández, Natasha L. Orr, Jooyoon Hong, Yunhee Choi-Kuaea, Horacio Maluf, Bonnie Balzer, Ilana Cass, Mireille Truong, Yemin Wang, Margareta D. Pisarska, Huy Q. Dinh, Amal M El-Naggar, David G. Huntsman, Michael S. Anglesio, Marc T. Goodman, Fabíola Medeiros, Matthew T. Siedhoff, Kate Lawrenson
In: bioRxiv · 2021 · doi:10.1101/2021.05.20.445037 · W3161912777
preprint OA: green CC0 ⤵ 5 in-corpus citations
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Abstract

Abstract Endometriosis is a common, benign condition characterized by extensive heterogeneity in lesion appearance and patient symptoms. We profiled transcriptomes of 207,949 individual cells from endometriomata (n=7), extra-ovarian endometriosis (n=19), eutopic endometrium (n=4), unaffected ovary (n=1) and endometriosis-free peritoneum (n=4) to create a cellular atlas of endometrial-type epithelial cells, endometrial-type stromal cells and microenvironmental cell populations across tissue sites. Signatures of endometrial-type epithelium and stroma differed markedly across eutopic endometrium, endometrioma, superficial extra-ovarian disease and deep infiltrating endometriosis, suggesting that extensive transcriptional reprogramming is a core component of the disease process. Endometriomas were notable for the dysregulation of pro-inflammatory pathways and upregulation of complement proteins C3 and C7 . Somatic ARID1A mutation in epithelial cells was associated with upregulation of pro-angiogenic factor SOX17 and remodeling of the endothelial cell compartment. Finally, signatures of endometriosis-associated endometrial-type epithelial clusters were enriched in ovarian cancers, reinforcing the epidemiologic associations between these two diseases.

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endometriosisdie_deep_infiltratingendometrioma

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