ECE2020 Oral Communications Endocrine-related Cancer (7 abstracts)
Is Carney complex a breast cancer predisposing syndrome? prospective study of 50 women
Patricia Vaduva 1,2 , Stéphanie Espiard 3 , Anne Jouinot 2,4 , Marie-Christine Vantyghem 3 , Guillaume Assié 2,4 , Cardot-Bauters Catherine 3 , Gerald Raverot 5 , Hieronimus Sylvie 6 , Archambeaud Francoise 7 , Lefebvre Hervé 8 , Nunes Laure 9 , Antoine Tabarin 9 , Lienhardt Anne 7 , Lionel Groussin 2,4 , Laurence Guignat 2 , Bonnet Fideline 2,4 , Marie-Odile North 10 & Jerome Bertherat 4,10
1Cochin Institute, Genomics and Signaling of endocrine tumors, Paris, France; 2Cochin Hospital, Division of Endocrinology, Paris, France; 3University Hospital Lille, Division of Endocrinology, Diabetes, and Metabolism, Lille, France; 4Cochin Institute, Genomics and Signaling of endocrine tumors, Paris, France; 5Groupement Hospitalier Est, Hospices Civils de Lyon, Division of Endocrinology, Bron, France; 6University Hospital Nice, Division of Endocrinology, Nice, France; 7University Hospital Limoges, Division of Endocrinology, Limoges, France; 8University Hospital Rouen, Division of Endocrinology, Rouen, France; 9University Hospital Bordeaux, Division of Endocrinology, Pessac, France; 10Cochin Hospital, Division of Genetics, Paris, France
Introduction: Carney Complex (CNC) is a rare genetic syndrome, with multiple endocrine and non-endocrine neoplasia, mostly due to inactivating mutations of the PRKAR1A gene. CNC has a wide spectrum of manifestations : most frequently skin lesions, cardiac myxomas and primary pigmented nodular adrenocortical dysplasia (PPNAD), but also thyroid nodules, schwannomas, breast tumors (mainly myxoid fibroadenomas and ductal adenomas)… The present study was designed to describe the characteristics of breast lesions diagnosed in CNC patients and their association with other manifestations of CNC and PRKAR1A genotype. Since breast cancer is the most frequent cancer in women and the leading cause of death from cancer worldwide, malignant breast lesions were carefully analysed.
Methods: This cohort comes from a 3 years follow-up multicenter French prospective study of 70 CNC patients (Espiard, et al., JCEM 2020). The 50 included women here were analyzed for CNC manifestations and particularly breast lesions, with systematic mammography, genotype and hormonal settings, in order to characterize breast lesions, look for association with other CNC manifestations and assess the frequency and average age of breast cancer in this population.
Results: Among the 38 women with breast imaging, 14 (28%) had breast lesions, half of them bilateral. Ten women (20%) presented with benign lesions: fibroadenomas (70%), bilateral polyfibromatosis (30%), diffuse myxomatosis (20%)… Six women had breast carcinomas (12%) : five had invasive cancer before 50 years old (10%) and one had ductal carcinoma in situ at 54 years old. One patient presented with recurrent contralateral breast cancer. The average age of breast cancer was 44.7 years old, 17 years younger than in the general population, and relative risk of breast cancer in women less than 50 years old was threefold higher in CNC patients compared to general population. Breast cancer had good prognosis factors: all lesions were N0M0, hormonal receptor positive, HER negative, except for one at metastatic stage at diagnosis. All the participants were alive at the end of the study, the observation period ranging from 7 to 14 years. All Breast carcinomas occurred in PRKAR1A mutated patients. The occurrence of carcinomas was associated neither with conventional risk factors for breast cancer, nor with any other CNC manifestations.
Conclusion: Breast lesions are frequent in women with CNC and breast carcinoma might be considered a “new” manifestation of this disease. As CNC could predispose to breast carcinoma, an adequate screening strategy and follow up should be discussed in affected women.
Volume 70
Article tools
My recent searches
My recently viewed abstracts
Authors
Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
© Bioscientifica 2024 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more