{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:20:19Z","timestamp":1784557219745,"version":"3.55.0"},"reference-count":0,"publisher":"Bioscientifica","issue":"6","content-domain":{"domain":["erc.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2020,6]]},"abstract":"\n This study aimed to evaluate liver involvement in patients with Carney complex (CNC) based on a large cohort and to analyze any germline\n PRKAR1A<\/jats:italic>\n genotype\u2013phenotype association of liver disease. The study included 83 patients with CNC, followed between 1995 and 2018 at a tertiary research center. We reviewed liver images, recorded types and number of lesions and analyzed per genotype: all patients were sequenced for the\n PRKAR1A<\/jats:italic>\n gene. A total of 29\/83 patients (24.0%) had liver radiological findings. Patients with liver lesion had a significantly higher rate of pathogenic variants detected in the\n PRKAR1A<\/jats:italic>\n gene (72.4 vs 38.9%,\n P<\/jats:italic>\n \u2009=\u20090.005, respectively). Patients with a pathogenic variant detected on germline\n PRKAR1A<\/jats:italic>\n analysis had a higher risk for having a liver lesion compared with patients with wild-type (WT)\n PRKAR1A<\/jats:italic>\n alleles (21\/42 (50.0%) vs 8\/41 (19.5%), respectively,\n P<\/jats:italic>\n \u2009=\u20090.004). Among patients with liver lesions, those with a nonsense\n PRKAR1A<\/jats:italic>\n pathogenic-variant had more liver lesions (7\/7) than among those with other pathogenic-variant types (8\/22,\n P<\/jats:italic>\n \u2009=\u20090.001). In multivariable analysis, detection of liver lesion(s) was associated with an odds ratio of 5.2 for cardiac myxomas (95% CI 1.55\u201317.49,\n P<\/jats:italic>\n \u2009=\u20090.008). In conclusion, patients with CNC, particularly with a\n PRKAR1A<\/jats:italic>\n pathogenic variant, have a higher rate of liver lesions. Additionally, liver lesions are associated with a high risk for cardiac myxomas in this population.\n <\/jats:p>","DOI":"10.1530\/erc-19-0517","type":"journal-article","created":{"date-parts":[[2020,4,17]],"date-time":"2020-04-17T08:53:10Z","timestamp":1587113590000},"page":"355-360","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":3,"title":["Liver findings in patients with Carney complex, germline PRKAR1A pathogenic variants, and link to cardiac myxomas"],"prefix":"10.1530","volume":"27","author":[{"given":"Amit","family":"Tirosh","sequence":"first","affiliation":[{"name":"1Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development National Institutes of Health, Bethesda, Maryland, USA"},{"name":"2Neuroendocrine Tumors Service, The Chaim Sheba Medical Center, Tel HaShomer, and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmed","family":"Hamimi","sequence":"additional","affiliation":[{"name":"3Biomedical and Metabolic Imaging Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabio","family":"Faucz","sequence":"additional","affiliation":[{"name":"1Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development National Institutes of Health, Bethesda, Maryland, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Genya","family":"Aharon-Hananel","sequence":"additional","affiliation":[{"name":"2Neuroendocrine Tumors Service, The Chaim Sheba Medical Center, Tel HaShomer, and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phaedon D","family":"Zavras","sequence":"additional","affiliation":[{"name":"4Infectious Disease Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Belen","family":"Bonella","sequence":"additional","affiliation":[{"name":"5Hospital Italiano de Buenos Aires, Buenos Aires, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adi","family":"Auerbach","sequence":"additional","affiliation":[{"name":"6Pediatric Endocrine Unit, Shaarei Zedek, Jerusalem, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Gillis","sequence":"additional","affiliation":[{"name":"7Department of Pediatrics and Pediatric Endocrine Unit, Hadassah-Hebrew University Medical Center, Jerusalem, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charalampos","family":"Lyssikatos","sequence":"additional","affiliation":[{"name":"1Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development National Institutes of Health, Bethesda, Maryland, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Belyavskaya","sequence":"additional","affiliation":[{"name":"1Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development National Institutes of Health, Bethesda, Maryland, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Constantine A","family":"Stratakis","sequence":"additional","affiliation":[{"name":"1Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development National Institutes of Health, Bethesda, Maryland, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmed M","family":"Gharib","sequence":"additional","affiliation":[{"name":"3Biomedical and Metabolic Imaging Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","container-title":["Endocrine-Related Cancer"],"original-title":[],"link":[{"URL":"https:\/\/erc.bioscientifica.com\/view\/journals\/erc\/27\/6\/ERC-19-0517.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/erc.bioscientifica.com\/downloadpdf\/journals\/erc\/27\/6\/ERC-19-0517.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T13:55:36Z","timestamp":1784555736000},"score":1,"resource":{"primary":{"URL":"http:\/\/journals.bioscientifica.com\/erc\/article\/27\/6\/355-360\/25437"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,6]]},"references-count":0,"journal-issue":{"issue":"6"},"URL":"https:\/\/doi.org\/10.1530\/erc-19-0517","relation":{},"ISSN":["1351-0088","1479-6821"],"issn-type":[{"value":"1351-0088","type":"print"},{"value":"1479-6821","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,6]]}}}