ECE2017 Guided Posters Endocrine Tumours (13 abstracts)
Evaluation of the occurrence of the manifestations of Carney complex in a french cohort of 70 patients during a three years standardized follow-up
Stéphanie Espiard 1, , Catherine Cardot-Bauters 2 , Gerald Raverot 3 , Marie-Laure Nunes 4 , Françoise Brucker-Davis 5 , Muriel Houang 6 , Françoise Archambeaud-Mouveroux 7 , Anne Lienhardt 8 , Hervé Lefebvre 9 , Olivier Chabre 10 , Antoine Tabarin 4 , Marie-Christine Vantyghem 2 & Jérôme Bertherat 1
1Department of Endocrinology, Paris Public University Hospitals, Cochin Hospital, Paris, France; 2Department of Endocrinology, Diabetology and Metabolism, Lille University Hospital, Huriez Hospital, Lille, France; 3Department of Endocrinology, Lyon Public University Hospitals, Lyon, France; 4Department of Endocrinology, Diabetology and Metabolism, Bordeaux University Hospital, Haut-Lévêque Hospital, Pessac, France; 5Department of Endocrinology, Diabetology and Reproductive Medicine, Nice University Hospital, Nice, France; 6Department of Pediatric Endocrinology, Paris Public University Hospital, Armand-Trousseau Hospital, Paris, France; 7Department of Endocrinology, Limoges University Hospital, Le Cluzeau Hospital, Limoges, France; 8Department of Pediatry, Limoges University Hospital, Limoges, France; 9Department of Endocrinology, Diabetology and Metabolism, Rouen University Hospital, Rouen, France; 10Department of Endocrinology, Grenoble University Hospital, Albert Michallon Hospital, Grenoble, France.
Introduction: The Carney Complex is a multiple endocrine and non endocrine neoplasia mostly due to PRKAR1A mutations. Spectrum of manifestations and genotype-phenotype correlations have been previously described by retrospective studies. A prospective study evaluating the occurrence of the different manifestations was needed to precise the optimum follow-up.
Methods: Multi-center national prospective study (Clinical Trials NCT00668291) including 70 patients mutated or wild-type for PRKAR1A followed prospectively during 3years with screening of the different manifestations by annual clinical, biological and radiological evaluation.
Results: The cohort was compound of 50 females and 20 males with a mean age at 35.4years +/−16.7. Prevalence of cardiac myxomas at the end of the follow-up was 22.9% with newly diagnosis during the study period for 3 patients. Forty-four% of patients with myxomas had related stroke attack and 56% had recurrences. Median delay between recurrences was 3.8years (minimum-maximum: 0.8–24). Primary pigmented adrenal nodular disease was diagnosed in 57.1%. Skin manifestations, abnormal somatotroph hormonal tests and thyroid tumors were observed respectively in 58.6, 21.4 and 12.9%. Four% had melanotic shwannomas confirmed by histology. Spinal magnetic resonance imagery revealed lesions for 8.6%. Characteristic multiples calcified tumors on testicular ultrasonography were present in 35% of male patients. Ten% of female patients had surgery for breast myxoma or adenofibroma. Forty% had lesions classified ACR2-3 at mammography. Interestingly, four patients (8%) had breast adenocarcinomas (11.1% of female older than 30years). Eighty-three% of patients had PRKAR1A mutations. Patients carrying the mutation c.709-7del6 (34% of the cohort) had no manifestation or phenotype restricted to adrenal, lentigines and abnormal somatotroph test.
Conclusion: The penetrance of the disease is high after screening except for patient carrying the c.709-7del6 mutation. This study highlights the importance of an annual follow-up, with especially annual cardiac imaging for patients with history of cardiac myxomas and earlier and regular senologic evaluation.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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