{"doi":"10.1530/erc-19-0517","title":"Liver findings in patients with Carney complex, germline PRKAR1A pathogenic variants, and link to cardiac myxomas","abstract":"This study aimed to evaluate liver involvement in patients with Carney complex (CNC) based on a large cohort and to analyze any germline PRKAR1A genotype-phenotype 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 PRKAR1A 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 PRKAR1A gene (72.4 vs 38.9%, P = 0.005, respectively). Patients with a pathogenic variant detected on germline PRKAR1A analysis had a higher risk for having a liver lesion compared with patients with wild-type (WT) PRKAR1A alleles (21/42 (50.0%) vs 8/41 (19.5%), respectively, P = 0.004). Among patients with liver lesions, those with a nonsense PRKAR1A pathogenic-variant had more liver lesions (7/7) than among those with other pathogenic-variant types (8/22, P = 0.001). In multivariable analysis, detection of liver lesion(s) was associated with an odds ratio of 5.2 for cardiac myxomas (95% CI 1.55-17.49, P = 0.008). In conclusion, patients with CNC, particularly with a PRKAR1A pathogenic variant, have a higher rate of liver lesions. Additionally, liver lesions are associated with a high risk for cardiac myxomas in this population.","journal":"Endocrine Related Cancer","year":2020,"id":113269,"datarank":0.29065125109915774,"base_score":1.6094379124341003,"endowment":1.6094379124341003,"self_citation_contribution":0.24141568686511508,"citation_network_contribution":0.04923556423404264,"self_endowment_contribution":0.24141568686511508,"citer_contribution":0.04923556423404264,"corpus_percentile":43.83847760501276,"corpus_rank":7261,"citation_count":4,"citer_count":3,"citers_with_citation_signal":2,"citers_with_endowment":2,"datacite_reuse_total":0,"is_dataset":true,"is_dataset_confidence":0.6845,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2020-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":374115,"name":"Ahmed Hamimi","orcid":"0000-0001-6688-1937","position":1,"is_corresponding":false},{"id":356392,"name":"Fábio R. Faucz","orcid":"0000-0001-7959-9842","position":2,"is_corresponding":false},{"id":535706,"name":"Genya Aharon‐Hananel","orcid":null,"position":3,"is_corresponding":false},{"id":317418,"name":"Phaedon D. Zavras","orcid":"0000-0001-7888-385X","position":4,"is_corresponding":false},{"id":535707,"name":"Belén Bonella","orcid":null,"position":5,"is_corresponding":false},{"id":535708,"name":"Adi Auerbach","orcid":null,"position":6,"is_corresponding":false},{"id":534907,"name":"David Gillis","orcid":"0000-0003-3858-6943","position":7,"is_corresponding":false},{"id":535709,"name":"Charalampos Lyssikatos","orcid":null,"position":8,"is_corresponding":false},{"id":535710,"name":"Elena Belyavskaya","orcid":null,"position":9,"is_corresponding":false},{"id":287856,"name":"Constantine A. Stratakis","orcid":"0000-0002-4058-5520","position":10,"is_corresponding":false},{"id":374116,"name":"Ahmed M. Gharib","orcid":"0000-0002-2476-481X","position":11,"is_corresponding":false},{"id":280594,"name":"Amit Tirosh","orcid":"0000-0003-3794-9634","position":0,"is_corresponding":true}],"reference_count":18,"raw_metadata":null,"created_at":"2026-07-18T23:13:21.458038Z","pmid":"32302974","pmcid":"PMC7486872","fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}