Frequency and incidence of Carney complex manifestations: A prospective multicenter study with a three-year follow-up
| Autor: | Catherine Cardot-Bauters, Francoise Archambeaud-Mouveroux, Muriel Houang, M.O. North, Gérald Raverot, Stéphanie Espiard, Anne Lienhardt, Hervé Lefebvre, Muriel Bottineau, Fidéline Bonnet, Denis Duboc, Olivier Chabre, Marie-Laure Nunes, Jérôme Bertherat, Antoine Feydy, Nicolas Dupin, Marie-Christine Vantyghem, Guillaume Assié, Sebastian Stroër, Françoise Brucker-Davis, L. Cabanes, Sophie Grabar, Antoine Tabarin, Lionel Groussin, Laurence Guignat |
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| Rok vydání: | 2020 |
| Předmět: |
Adult
Male 0301 basic medicine Pediatrics medicine.medical_specialty Adolescent Cyclic AMP-Dependent Protein Kinase RIalpha Subunit Endocrinology Diabetes and Metabolism Clinical Biochemistry Biochemistry Asymptomatic Young Adult 03 medical and health sciences 0302 clinical medicine Endocrinology Internal medicine Prevalence medicine Humans Prospective Studies Carney Complex Child Multiple endocrine neoplasia Prospective cohort study Carney complex Aged Subclinical infection business.industry Incidence Incidence (epidemiology) Biochemistry (medical) Myxoma Retrospective cohort study Middle Aged medicine.disease 030104 developmental biology Child Preschool 030220 oncology & carcinogenesis Cohort Female France medicine.symptom business Follow-Up Studies |
| Zdroj: | Yearbook of Paediatric Endocrinology. |
| ISSN: | 1662-4009 |
| Popis: | Introduction Carney Complex (CNC) is a rare multiple endocrine and nonendocrine neoplasia syndrome. Manifestations and genotype-phenotype correlations have been described by retrospective studies, but no prospective study evaluating the occurrence of the different manifestations has been available so far. Methods This multicenter national prospective study included patients with CNC, primary pigmented nodular adrenal disease (PPNAD), or a pathogenic PRKAR1A mutation; after a full initial workup, participants were followed for 3 years with annual standardized evaluation. Results The cohort included 70 patients (50 female/20 male, mean age 35.4 ± 16.7 years, 81% carrying PRKAR1A mutation). The initial investigations allowed identification of several manifestations. At the end of the 3-year follow-up, the newly diagnosed manifestations of the disease were subclinical acromegaly in 6 patients, bilateral testicular calcifications in 1 patient, and cardiac myxomas in 2 patients. Recurrences of cardiac myxomas were diagnosed in 4 patients during the 3-year follow-up study period. Asymptomatic abnormalities of the corticotroph and somatotroph axis that did not meet criteria of PPNAD and acromegaly were observed in 11.4% and 30% of the patients, respectively. Patients carrying the PRKAR1A c.709-7del6 mutation had a mild phenotype. Conclusion This study underlines the importance of a systematic follow-up of the CNC manifestations, especially a biannual screening for cardiac myxoma. By contrast, regular screening for the other manifestations after a first extensive workup could be spread out, leading to a lighter and more acceptable follow-up schedule for patients. These are important results for recommendations for long-term management of CNC patients. |
| Databáze: | OpenAIRE |
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