Liver findings in patients with Carney complex, germline PRKAR1A pathogenic variants, and link to cardiac myxomas
| Autor: | Adi Auerbach, Belen Bonella, Amit Tirosh, Charalampos Lyssikatos, Genya Aharon-Hananel, Elena Belyavskaya, Fabio R. Faucz, Constantine A. Stratakis, David Gillis, Ahmed Hamimi, Ahmed M. Gharib, Phaedon D Zavras |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Adult
Male 0301 basic medicine Cancer Research medicine.medical_specialty Genotype Cyclic AMP-Dependent Protein Kinase RIalpha Subunit Endocrinology Diabetes and Metabolism Population Gastroenterology Article Germline Heart Neoplasms 03 medical and health sciences Liver disease 0302 clinical medicine Endocrinology Internal medicine medicine Humans Allele Carney Complex education Carney complex PRKAR1A Retrospective Studies education.field_of_study business.industry Odds ratio medicine.disease Germ Cells Phenotype 030104 developmental biology Liver Oncology 030220 oncology & carcinogenesis Female business Myxoma |
| Zdroj: | Endocr Relat Cancer |
| ISSN: | 1479-6821 1351-0088 |
| DOI: | 10.1530/erc-19-0517 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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