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Inserm/CNRS UMR 1283/8199, Pasteur Institute of Lille, EGID, Lille, France
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Univ. Lille, Inserm, CHU Lille, U1286 – Infinite – Institute for Translational Research in Inflammation, Lille, France
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Purpose
Mosaicism is a feature of several inherited tumor syndromes. Only a few cases of mosaicism have been described in multiple endocrine neoplasia type 1 (MEN1). Next-generation sequencing (NGS) offers new possibilities for detecting mosaicism. Here, we report the first study to systematically look for MEN1 mosaicism, using blood DNA, in MEN1-suspected patients but without MEN1 pathogenic variants (PV) in a heterozygous state.
Methods
Digital targeted NGS, including unique molecular identifiers (UMIs), was performed in routine practice, and the analytic performance of this method was verified.
Results
Among a cohort of 119 patients harboring from 2 to 5 MEN1 lesions, we identified 3 patients with MEN1 mosaic PVs. The allele frequencies ranged from 2.3 to 9.5%. The detection rate of MEN1 mosaicism in patients bearing at least 3 MEN1 lesions was 17% (3/18). No cases were detected in patients with two lesions.
Conclusion
We report here three new cases with MEN1 mosaicism. This study examined the performance of UMI in the diagnosis of MEN1 mosaicism in routine practice, and our results underline that the frequency of mosaicism is probably underestimated in patients with suspected MEN1.
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Royal Marsden Hospital, London, UK
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of immunotherapy and/or immunomodulation with glucocorticoid therapy is usually unnecessary, with immunosuppressive doses of glucocorticoids only rarely required where the initial inflammation causes severe symptoms. Lastly, optimal exogenous
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Universidad La Salle, Posgrado de la Facultad de Ciencias Químicas, Ciudad de México, México
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-Martinez MLÁ Preda O Ramirez-Tortosa C Gonzalez-Hernandez A Marchal JA & Picon-Ruiz M . Estradiol and estrone have different biological functions to induce NF-κB-driven inflammation, EMT and stemness in ER+ cancer cells . International Journal of
