{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T01:47:45Z","timestamp":1783648065970,"version":"3.55.0"},"reference-count":31,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,7,27]],"date-time":"2016-07-27T00:00:00Z","timestamp":1469577600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004761","name":"Natural Science Foundation of Hainan Province","doi-asserted-by":"publisher","award":["\u201c20168351\u201d"],"award-info":[{"award-number":["\u201c20168351\u201d"]}],"id":[{"id":"10.13039\/501100004761","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2016,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:sec><jats:title>Context<\/jats:title><jats:p>Recent studies have identified that the somatic <jats:styled-content style=\"fixed-case\">PRKACA<\/jats:styled-content> L206R mutation can cause cortisol\u2010producing adenomas (<jats:styled-content style=\"fixed-case\">CPA<\/jats:styled-content>s). This study investigated the prevalence and characteristics of <jats:styled-content style=\"fixed-case\">PRKACA<\/jats:styled-content>,<jats:styled-content style=\"fixed-case\"> GNAS<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">CTNNB<\/jats:styled-content>1 mutations in adrenal lesions in patients from a single centre in China.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design, Patients and Measurements<\/jats:title><jats:p>We sequenced <jats:styled-content style=\"fixed-case\">PRKACA<\/jats:styled-content>,<jats:styled-content style=\"fixed-case\"> GNAS<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">CTNNB<\/jats:styled-content>1 genes in 108 patients, including 60 patients with <jats:styled-content style=\"fixed-case\">CPA<\/jats:styled-content>s (57 with unilateral and three with bilateral adenomas), 13 with nonfunctional adenomas, 12 with adrenocortical carcinomas (<jats:styled-content style=\"fixed-case\">ACC<\/jats:styled-content>s), 15 with primary bilateral macronodular hyperplasia (<jats:styled-content style=\"fixed-case\">PBMAH<\/jats:styled-content>) and eight with aldosterone and cortisol cosecreting adenomas. Mutations in <jats:styled-content style=\"fixed-case\">PRKACA<\/jats:styled-content>,<jats:styled-content style=\"fixed-case\"> GNAS<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">CTNNB<\/jats:styled-content>1 were examined, and clinical characteristics were compared.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Among the unilateral <jats:styled-content style=\"fixed-case\">CPA<\/jats:styled-content>s, we identified somatic mutations in <jats:styled-content style=\"fixed-case\">PRKACA<\/jats:styled-content> (L206R) in 23 cases (40\u00b74%), <jats:styled-content style=\"fixed-case\">GNAS<\/jats:styled-content> (R201C and R201H) in six cases (10\u00b75%), <jats:styled-content style=\"fixed-case\">CTNNB<\/jats:styled-content>1 (S45C, L46P and S45P) in six cases (10\u00b75%) and <jats:styled-content style=\"fixed-case\">CTNNB<\/jats:styled-content>1 plus <jats:styled-content style=\"fixed-case\">GNAS<\/jats:styled-content> in two cases (3\u00b75%). <jats:styled-content style=\"fixed-case\">PRKACA<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">GNAS<\/jats:styled-content> mutations were mutually exclusive. Among the patients with nonfunctional adenoma, two carried <jats:styled-content style=\"fixed-case\">CTNNB<\/jats:styled-content>1 mutations. Among the patients with <jats:styled-content style=\"fixed-case\">ACC<\/jats:styled-content>, two carried <jats:styled-content style=\"fixed-case\">GNAS<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">CTNNB<\/jats:styled-content>1 mutations but none carried <jats:styled-content style=\"fixed-case\">PRKACA<\/jats:styled-content> mutations. One patient showed bilateral <jats:styled-content style=\"fixed-case\">CPA<\/jats:styled-content>, and one <jats:styled-content style=\"fixed-case\">PBMAH<\/jats:styled-content> patient carried <jats:styled-content style=\"fixed-case\">PRKACA<\/jats:styled-content> mutations. No mutations in <jats:styled-content style=\"fixed-case\">PRKACA<\/jats:styled-content>,<jats:styled-content style=\"fixed-case\"> GNAS<\/jats:styled-content> or <jats:styled-content style=\"fixed-case\">CTNNB<\/jats:styled-content>1 were identified in the eight patients with aldosterone and cortisol cosecreting adenomas. <jats:styled-content style=\"fixed-case\">PRKACA<\/jats:styled-content>\u2010mutant adenomas were associated with young age, overt Cushing's syndrome and high cortisol levels compared with non\u2010<jats:styled-content style=\"fixed-case\">PRKACA<\/jats:styled-content>\u2010mutant or <jats:styled-content style=\"fixed-case\">CTNNB<\/jats:styled-content>1\u2010mutant lesions.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p><jats:styled-content style=\"fixed-case\">PRKACA<\/jats:styled-content> mutations are present in <jats:styled-content style=\"fixed-case\">CPA<\/jats:styled-content>s and bilateral adrenal macronodular hyperplasia. <jats:styled-content style=\"fixed-case\">PRKACA<\/jats:styled-content> mutation is associated with more severe autonomous cortisol secretion.<\/jats:p><\/jats:sec>","DOI":"10.1111\/cen.13134","type":"journal-article","created":{"date-parts":[[2016,6,14]],"date-time":"2016-06-14T12:04:21Z","timestamp":1465905861000},"page":"954-961","source":"Crossref","is-referenced-by-count":13,"title":["Clinical characteristics of <scp>PRKACA<\/scp> mutations in Chinese patients with adrenal lesions: a single\u2010centre study"],"prefix":"10.1111","volume":"85","author":[{"given":"Xintao","family":"Li","sequence":"first","affiliation":[{"name":"State Key Laboratory of Kidney Disease Department of Urology Chinese PLA Medical Academy Chinese People's Liberation Army General Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baojun","family":"Wang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Kidney Disease Department of Urology Chinese 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