Evaluation of the occurrence of the manifestations of Carney complex in a french cohort of 70 patients during a three years standardized follow-up

Abstract

International audienceIntroductionThe Carney Complex is a multiple endocrine and non endocrine neoplasia mostly due to PRKAR1A mutations. Spectrum of manifestations and genotypephenotype 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.MethodsMulti-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.ResultsThe cohort was compound of 50 females and 20 males with a mean age at 35.4years C/K16.7. Prevalence of cardiac myxomas at the end of the follow-up was 22.9% with newly diagnosis during the study period for 3 patients. Fortyfour% of patients with myxomas had related stroke attack and 56% had recurrences. Median delay between recurrences was 3.8years (minimummaximum: 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.ConclusionThe 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.DOI: 10.1530/endoabs.49.GP12