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Somatic mutations in <jats:italic>KCNJ5<\/jats:italic>, <jats:italic>ATP1A1<\/jats:italic>, <jats:italic>ATP2B3<\/jats:italic>, <jats:italic>CACNA1D<\/jats:italic> and <jats:italic>CTNNB1<\/jats:italic> have been described in ~60% of these tumours. We subjected 15 aldosterone producing adenomas (13 with known mutations and two without) to RNA Sequencing and Whole Genome Sequencing (n\u2009=\u20092). All known mutations were detected in the RNA-Seq reads, and mutations in <jats:italic>ATP2B3<\/jats:italic> (G123R) and <jats:italic>CACNA1D<\/jats:italic> (S410L) were discovered in the tumours without known mutations. Adenomas with <jats:italic>CTNNB1<\/jats:italic> mutations showed a large number of differentially expressed genes (1360 compared to 106 and 75 for <jats:italic>KCNJ5<\/jats:italic> and <jats:italic>ATP1A1<\/jats:italic>\/<jats:italic>ATP2B3<\/jats:italic> respectively) and clustered together in a hierarchical clustering analysis. RT-PCR in an extended cohort of 49 APAs confirmed higher expression of <jats:italic>AFF3<\/jats:italic> and <jats:italic>ISM1<\/jats:italic> in APAs with <jats:italic>CTNNB1<\/jats:italic> mutations. Investigation of the expression of genes involved in proliferation and apoptosis revealed subtle differences between tumours with and without <jats:italic>CTNNB1<\/jats:italic> mutations. Together our results consolidate the notion that <jats:italic>CTNNB1<\/jats:italic> mutations characterize a distinct subgroup of APAs.<\/jats:p>","DOI":"10.1038\/s41598-019-41525-2","type":"journal-article","created":{"date-parts":[[2019,4,18]],"date-time":"2019-04-18T10:08:13Z","timestamp":1555582093000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["RNA Sequencing Provides Novel Insights into the Transcriptome of Aldosterone Producing Adenomas"],"prefix":"10.1038","volume":"9","author":[{"given":"Samuel","family":"Backman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias","family":"\u00c5kerstr\u00f6m","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8171-5451","authenticated-orcid":false,"given":"Rajani","family":"Maharjan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenko","family":"Cupisti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holger S.","family":"Willenberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Per","family":"Hellman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peyman","family":"Bj\u00f6rklund","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,4,18]]},"reference":[{"key":"41525_CR1","doi-asserted-by":"publisher","first-page":"1889","DOI":"10.1210\/jc.2015-4061","volume":"101","author":"JW Funder","year":"2016","unstructured":"Funder, J. W. et al. The Management of Primary Aldosteronism: Case Detection, Diagnosis, and Treatment: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab 101, 1889\u20131916, https:\/\/doi.org\/10.1210\/jc.2015-4061 (2016).","journal-title":"J Clin Endocrinol Metab"},{"key":"41525_CR2","doi-asserted-by":"publisher","first-page":"768","DOI":"10.1126\/science.1198785","volume":"331","author":"M Choi","year":"2011","unstructured":"Choi, M. et al. K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension. Science 331, 768\u2013772, https:\/\/doi.org\/10.1126\/science.1198785 (2011).","journal-title":"Science"},{"key":"41525_CR3","doi-asserted-by":"publisher","first-page":"1055","DOI":"10.1038\/ng.2716","volume":"45","author":"EA Azizan","year":"2013","unstructured":"Azizan, E. A. et al. Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension. 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