3 results on '"Espiard S"'
Search Results
2. Beyond MEN1, When to Think About MEN4? Retrospective Study on 5600 Patients in the French Population and Literature Review.
- Author
-
Chevalier B, Coppin L, Romanet P, Cuny T, Maïza JC, Abeillon J, Forestier J, Walter T, Gilly O, Le Bras M, Smati S, Nunes ML, Geslot A, Grunenwald S, Mouly C, Arnault G, Wagner K, Koumakis E, Cortet-Rudelli C, Merlen É, Jannin A, Espiard S, Morange I, Baudin É, Cavaille M, Tauveron I, Teissier MP, Borson-Chazot F, Mirebeau-Prunier D, Savagner F, Pasmant É, Giraud S, Vantyghem MC, Goudet P, Barlier A, Cardot-Bauters C, and Odou MF
- Subjects
- Humans, Retrospective Studies, France epidemiology, Male, Female, Adult, Middle Aged, Aged, Germ-Line Mutation, Phenotype, Cyclin-Dependent Kinase Inhibitor p27 genetics, Prevalence, Multiple Endocrine Neoplasia genetics, Multiple Endocrine Neoplasia epidemiology, Proto-Oncogene Proteins, Multiple Endocrine Neoplasia Type 1 genetics, Multiple Endocrine Neoplasia Type 1 epidemiology
- Abstract
Context: Germline CDKN1B variants predispose patients to multiple endocrine neoplasia type 4 (MEN4), a rare MEN1-like syndrome, with <100 reported cases since its discovery in 2006. Although CDKN1B mutations are frequently suggested to explain cases of genetically negative MEN1, the prevalence and phenotype of MEN4 patients is poorly known, and genetic counseling is unclear., Objective: To evaluate the prevalence of MEN4 in MEN1-suspected patients and characterize the phenotype of MEN4 patients., Design: Retrospective observational nationwide study. Narrative review of literature and variant class reassessment., Patients: We included all adult patients with class 3/4/5 CDKN1B variants identified by the laboratories from the French Oncogenetic Network on Neuroendocrine Tumors network between 2015 and 2022 through germline genetic testing for MEN1 suspicion. After class reassessment, we compared the phenotype of symptomatic patients with class 4/5 CDKN1B variants (ie, with genetically confirmed MEN4 diagnosis) in our series and in literature with 66 matched MEN1 patients from the UMD-MEN1 database., Results: From 5600 MEN1-suspected patients analyzed, 4 with class 4/5 CDKN1B variant were found (0.07%). They presented with multiple duodenal NET, primary hyperparathyroidism (PHPT) and adrenal nodule, isolated PHPT, PHPT, and pancreatic neuroendocrine tumor. We listed 29 patients with CDKN1B class 4/5 variants from the literature. Compared with matched MEN1 patients, MEN4 patients presented lower NET incidence and older age at PHPT diagnosis., Conclusion: The prevalence of MEN4 is low. PHPT and pituitary adenoma represent the main associated lesions, NETs are rare. Our results suggest a milder and later phenotype than in MEN1. Our observations will help to improve genetic counseling and management of MEN4 families., (© The Author(s) 2024. Published by Oxford University Press on behalf of the Endocrine Society. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)
- Published
- 2024
- Full Text
- View/download PDF
3. Frequency and Incidence of Carney Complex Manifestations: A Prospective Multicenter Study With a Three-Year Follow-Up.
- Author
-
Espiard S, Vantyghem MC, Assié G, Cardot-Bauters C, Raverot G, Brucker-Davis F, Archambeaud-Mouveroux F, Lefebvre H, Nunes ML, Tabarin A, Lienhardt A, Chabre O, Houang M, Bottineau M, Stroër S, Groussin L, Guignat L, Cabanes L, Feydy A, Bonnet F, North MO, Dupin N, Grabar S, Duboc D, and Bertherat J
- Subjects
- Adolescent, Adult, Aged, Carney Complex diagnosis, Carney Complex genetics, Child, Child, Preschool, Cyclic AMP-Dependent Protein Kinase RIalpha Subunit genetics, Female, Follow-Up Studies, France epidemiology, Humans, Incidence, Male, Middle Aged, Prevalence, Prospective Studies, Young Adult, Carney Complex epidemiology
- Abstract
Introduction: Carney Complex (CNC) is a rare multiple endocrine and nonendocrine neoplasia syndrome. Manifestations and genotype-phenotype correlations have been described by retrospective studies, but no prospective study evaluating the occurrence of the different manifestations has been available so far., Methods: This multicenter national prospective study included patients with CNC, primary pigmented nodular adrenal disease (PPNAD), or a pathogenic PRKAR1A mutation; after a full initial workup, participants were followed for 3 years with annual standardized evaluation., Results: The cohort included 70 patients (50 female/20 male, mean age 35.4 ± 16.7 years, 81% carrying PRKAR1A mutation). The initial investigations allowed identification of several manifestations. At the end of the 3-year follow-up, the newly diagnosed manifestations of the disease were subclinical acromegaly in 6 patients, bilateral testicular calcifications in 1 patient, and cardiac myxomas in 2 patients. Recurrences of cardiac myxomas were diagnosed in 4 patients during the 3-year follow-up study period. Asymptomatic abnormalities of the corticotroph and somatotroph axis that did not meet criteria of PPNAD and acromegaly were observed in 11.4% and 30% of the patients, respectively. Patients carrying the PRKAR1A c.709-7del6 mutation had a mild phenotype., Conclusion: This study underlines the importance of a systematic follow-up of the CNC manifestations, especially a biannual screening for cardiac myxoma. By contrast, regular screening for the other manifestations after a first extensive workup could be spread out, leading to a lighter and more acceptable follow-up schedule for patients. These are important results for recommendations for long-term management of CNC patients., (© Endocrine Society 2020. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)
- Published
- 2020
- Full Text
- View/download PDF
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.