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- Title
Frequency and Incidence of Carney Complex Manifestations: A Prospective Multicenter Study With a Three-Year Follow-Up.
- Authors
Espiard, Stéphanie; Vantyghem, Marie-Christine; Assié, Guillaume; Cardot-Bauters, Catherine; Raverot, Gerald; Brucker-Davis, Françoise; Archambeaud-Mouveroux, Françoise; Lefebvre, Hervé; Nunes, Marie-Laure; Tabarin, Antoine; Lienhardt, Anne; Chabre, Olivier; Houang, Muriel; Bottineau, Muriel; Stroër, Sebastian; Groussin, Lionel; Guignat, Laurence; Cabanes, Laure; Feydy, Antoine; Bonnet, Fidéline
- Abstract
<bold>Introduction: </bold>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.<bold>Methods: </bold>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.<bold>Results: </bold>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.<bold>Conclusion: </bold>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.
- Subjects
LONGITUDINAL method; NODULAR disease; ADRENAL diseases; CALCIPHYLAXIS; CARDIAC patients; MYXOMA
- Publication
Journal of Clinical Endocrinology & Metabolism, 2020, pN.PAG
- ISSN
0021-972X
- Publication type
journal article
- DOI
10.1210/clinem/dgaa002