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Date publication
juillet 2022
Journal
The Journal of clinical endocrinology and metabolism
Auteurs
Membres identifiés du Cancéropôle Est :
Dr BOULAGNON-ROMBI Camille
Tous les auteurs :
Lagarde A, Le Collen L, Boulagnon C, Brixi H, Durlach A, Mougel G, Cuny T, Delemer B, Barlier A, Romanet P
Lien Pubmed
Résumé
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disease due to inactivating mutations in the MEN1 gene. In the literature, few cases of MEN1 have been reported due to mosaic MEN1 mutations. Objective: We performed an extensive molecular characterization in several lesions and blood samples, including plasmatic circulating cell-free DNA (ccfDNA) in an exceptional case of a patient with MEN1 mosaicism causing primary hyperparathyroidism, multiple pancreatic neuroendocrine tumors (NET), and a metastatic thymic NET.
Mots clés
biomarker, ccfDNA, circulating cell-free DNA, circulating tumor DNA, genetic counselling, mosaic mutation, thymic neuroendocrine tumor
Référence
J Clin Endocrinol Metab. 2022 07 29;:
