Aberrant expression of genes associated with stemness and cancer in endometria and endometrioma in a subset of women with endometriosis

Authors:

Ponandai-Srinivasan, S., Andersson, K. L., Nister, M., Saare, M., Hassan, H. A., Varghese, S. J., ... & Lalitkumar, P. G. L.

Keywords:

endometriosis, ovarian cancer, multipotent stem cells, gene expression regulation, cancer-associated gene, multicellular spheroids, gene expressioncancerstem cellsendometriosisgenesendometriumovarian cancerstem cells, multipotentendometrioma

Abstract:

Isolated and expanded SC+ from both control and patient groups showed significantly higher surface expression of W5C5+, clonal expansion and 3D-spheroid formation capacity (P < 0.05) compared with SC−. The SC+ cells also undergo mesenchymal lineage differentiation, unlike SC−. Gene expression from paired-endometriosis samples showed significant downregulation of PTEN, ARID1A and TNFα (P < 0.05) in endometrioma compared with paired-endometrium SC+ samples. Hierarchical and multivariate clustering from both SC+ and tissue cohorts together identified 4 out of 30 endometrioma samples with aberrant expression of stem cell and cancer-associated genes, such as KIT, HIF2α and E-cadherin, altered expression ratio of ER-β/ER-α and downregulation of tumour suppressor genes (PTEN and ARID1A). Thus, we speculate that above changes may be potentially relevant to the development of EAOC.

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