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Master Thesis

Syndrome DICER1 : caractérisation des altérations moléculaires du second allèle du gène DICER1 au sein de tumeurs issues d’une même famille

Abstract : Introduction: DICER1 syndrome is a rare predisposition whose spectrum and carcinogenesis are still not completely defined. 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. Six tumor blocks were collected (1 Sertoli and Leydig cell tumor, 1 uterine adenosarcoma, 1 oligodendroglioma and 1 cardiac tumor, 2 thyroid lesions). DICER1 hotspots mutations have been identified as second genetic event in the thyroid lesions and gynecological cancers. No secondary event could be identified on the oligodendroglioma and the cardiac tumor to date. Conclusion: The somatic analyzes partially confirm the tumorigenesis hypothesis of DICER1 syndrome. Further genetic or epigenetic analyzes would be required to evaluate the implication of the DICER1 gene mutation in the carcinogenesis of oligodendroglioma and cardiac tumor. Adenosarcoma becomes a lesion suggestive of the DICER1 syndrome spectrum.
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Master Thesis
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Zoé-Marie Nevière. Syndrome DICER1 : caractérisation des altérations moléculaires du second allèle du gène DICER1 au sein de tumeurs issues d’une même famille. Médecine humaine et pathologie. 2019. ⟨dumas-02474558⟩

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