Systematic detection of mosaicism by using digital NGS reveals three new MEN1 mosaicisms
| العنوان: | Systematic detection of mosaicism by using digital NGS reveals three new MEN1 mosaicisms |
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| المؤلفون: | Arnaud Lagarde, Grégory Mougel, Lucie Coppin, Magalie Haissaguerre, Lauriane Le Collen, Amira Mohamed, Marc Klein, Marie-Françoise Odou, Antoine Tabarin, Hedia Brixi, Thomas Cuny, Brigitte Delemer, Anne Barlier, Pauline Romanet |
| المساهمون: | Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Marseille Maladies Rares (MarMaRa), Aix Marseille Université (AMU), Laboratoire de Biochimie et de Biologie Moléculaire [Hôpital de la Conception - APHM], Hôpital de la Conception [CHU - APHM] (LA CONCEPTION), Cancer Heterogeneity, Plasticity and Resistance to Therapies - UMR 9020 - U 1277 (CANTHER), Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Centre National de la Recherche Scientifique (CNRS), Hôpital cardiologique du Haut Leveque, Laboratoire de Microbiologie, Institut National de la Recherche Agronomique (INRA)-Université de Bourgogne (UB)-Ecole Nationale Supérieure de Biologie Appliquée à la Nutrition et à l'Alimentation de Dijon (ENSBANA), Hôpital Brabois, Centre Hospitalier Universitaire de Reims (CHU Reims), Service d'endocrinologie, diabète, maladies métaboliques [Hôpital de la Conception - APHM], All phases of this study were supported by grants from the InstitutNational de lutte contre le Cancer (INCa), the MarMaRa Institute, and theFrench Ministry of Health. The project resulting in this publication receivedfunding from the Excellence Initiative of Aix Marseille University -A*MidexaFrench ‘Investissement d’Avenir’ – Institute MarMaRa AMX-19-IET-007, Marseille medical genetics - Centre de génétique médicale de Marseille [MMG], Cancer Heterogeneity, Plasticity and Resistance to Therapies - UMR 9020 - U 1277 [CANTHER], Hôpital de la Conception [CHU - APHM] [LA CONCEPTION], Centre Hospitalier Universitaire de Reims [CHU Reims] |
| المصدر: | Endocrine Connections Endocrine Connections, 2022, 11 (11), ⟨10.1530/EC-22-0093⟩ |
| بيانات النشر: | Bioscientifica, 2022. |
| سنة النشر: | 2022 |
| مصطلحات موضوعية: | [SDV.GEN]Life Sciences [q-bio]/Genetics, Endocrinology, Endocrinology, Diabetes and Metabolism, Internal Medicine, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism |
| الوصف: | 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. |
| وصف الملف: | application/octet-stream |
| تدمد: | 2049-3614 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00bd8b34b72a95be1711967fb47ca455 https://doi.org/10.1530/ec-22-0093 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....00bd8b34b72a95be1711967fb47ca455 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 20493614 |
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