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, Parmi les apparentés porteurs, 78,6% avaient des lésions thyroïdiennes et 37,5% avaient présenté une tumeur. Certaines de ces tumeurs n'avaient jamais été rapportées dans le spectre du syndrome DICER1: une tumeur fibro-élastique, un oligodendrogliome et un cholangiocarcinome, Résultats: Sur les 21 individus inclus, 11 étaient porteurs de la mutation familiale du gène DICER1 et 3 étaient porteurs obligatoires, p.1

, Aucun événement secondaire n'a pu être identifié sur l'oligodendrogliome et la tumeur cardiaque. Conclusion : Les analyses somatiques confirment en partie l'hypothèse de tumorigenèse du syndrome de DICER1. D'autres analyses génétiques ou épigénétiques seraient nécessaires pour définir l'implication de l'altération du gène DICER1 dans la carcinogenèse de l'oligodendrogliome et de la tumeur cardiaque

. Mots-cles-:-syndrome-dicer1, . De-leydig, T. De-sertoli, and . Anglais, Objective: To determine the second DICER1 gene alteration in tumors from the same family. Material and methods: In this retrospective study, all tested kindreds or obligate carriers kindreds of this family were included. DICER1 gene have been analyzed by New Generation Sequencing on all available tumors. Results: Twenty-one kindred have been analyzed: 11 were carriers and 3 were mandatory carriers. Among carriers, 78.6% had thyroid lesions and 37.5% had presented tumors. Some of these tumors had never been reported in the DICER1 syndrome spectrum: a fibro-elastic tumor, an oligodendroglioma and a cholangiocarcinoma, DICER1 syndrome: Characterization of the somatic alterations of the second DICER1 gene in tumors from the same family RESUME

, KEY WORDS: DICER1 syndrom, fibro-elastic cardiac tumor, oligodendroglioma, pinealoblastoma, Leydig and Sertoli cells ovarian tumor, uterus adenosarcoma, cholangiocarcinoma