Patricia Vaduva, Florian Violon, Anne Jouinot, Lucas Bouys, Stéphanie Espiard, Fidéline Bonnet-Serrano, Marie Odile North, Catherine Cardot-Bauters, Gerald Raverot, Sylvie Hieronimus, Hervé Lefebvre, Marie-Laure Nunes, Antoine Tabarin, Lionel Groussin, Guillaume Assié, Mathilde Sibony, Marie-Christine Vantyghem, Eric Pasmant, Jérôme Bertherat
OBJECTIVE: Carney complex (CNC) is a rare genetic syndrome, mostly due to germline loss-of-function pathogenic variants in PRKAR1A. Carney complex includes pigmented skin lesions, cardiac myxomas, primary pigmented nodular adrenocortical dysplasia, and various breast benign tumors. DESIGN: The present study was designed to describe the characteristics of breast lesions in CNC patients and their association with other manifestations of CNC and PRKAR1A genotype. METHODS: A 3-year follow-up multicenter French prospective study of CNC patients included 50 women who were analyzed for CNC manifestations and particularly breast lesions, with breast imaging, genotyping, and hormonal settings...
February 1, 2024: European Journal of Endocrinology