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
European journal of endocrinology 2024 Feb 01Carney 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. 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. 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. Among the 38 women with breast imaging, 14 (39%) had breast lesions, half of them bilateral. Ten women (26%) presented with benign lesions and six with breast carcinomas (16%): one had ductal carcinoma in situ at 54, and five had invasive cancer before 50 years old, whom one with contralateral breast cancer during follow-up. The occurrence of breast cancer was more frequent in women with PRKAR1A pathogenic variant odds ratio = 6.34 (1.63-17.91) than in general population of same age. The mean age at breast cancer diagnosis was 44.7 years old: 17 years younger than in the general population. Breast cancer patients had good prognosis factors. All breast carcinomas occurred in individuals with familial CNC and PRKAR1A pathogenic variants. Loss of heterozygosity at the PRKAR1A locus in the 2 invasive breast carcinomas analyzed suggested a driver role of this tumor suppressor gene. As CNC could predispose to breast carcinoma, an adequate screening strategy and follow-up should be discussed in affected women. ClinicalTrial.gov NCT00668291. © The Author(s) 2024. Published by Oxford University Press on behalf of European Society of Endocrinology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.
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. Carney complex predisposes to breast cancer: prospective study of 50 women. European journal of endocrinology. 2024 Feb 01;190(2):121-129
PMID: 38252880
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