Systematic detection of mosaicism by using ...
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Compte-rendu et recension critique d'ouvrage
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Title :
Systematic detection of mosaicism by using digital NGS reveals three new MEN1 mosaicisms
Author(s) :
Lagarde, Arnaud [Auteur]
Laboratoire de Biochimie et de Biologie Moléculaire [Hôpital de la Conception - APHM]
Institut Marseille Maladies Rares [MarMaRa]
Marseille medical genetics - Centre de génétique médicale de Marseille [MMG]
Mougel, Grégory [Auteur]
Laboratoire de Biochimie et de Biologie Moléculaire [Hôpital de la Conception - APHM]
Institut Marseille Maladies Rares [MarMaRa]
Marseille medical genetics - Centre de génétique médicale de Marseille [MMG]
Coppin, Lucie [Auteur]
Hétérogénéité, Plasticité et Résistance aux Thérapies des Cancers = Cancer Heterogeneity, Plasticity and Resistance to Therapies - UMR 9020 - U 1277 [CANTHER]
Haissaguerre, Magalie [Auteur]
Le Collen, Lauriane [Auteur]
Laboratoire de Microbiologie
Mohamed, Amira [Auteur]
Hôpital de la Conception [CHU - APHM] [LA CONCEPTION]
Klein, Marc [Auteur]
Odou, Marie-Françoise [Auteur]
Tabarin, Antoine [Auteur]
Brixi, Hedia [Auteur]
Hôpital universitaire Robert Debré [Reims] [CHU Reims]
Cuny, Thomas [Auteur]
Service d'endocrinologie, diabète, maladies métaboliques [Hôpital de la Conception - APHM]
Institut Marseille Maladies Rares [MarMaRa]
Marseille medical genetics - Centre de génétique médicale de Marseille [MMG]
Delemer, Brigitte [Auteur]
Barlier, Anne [Auteur]
Laboratoire de Biochimie et de Biologie Moléculaire [Hôpital de la Conception - APHM]
Institut Marseille Maladies Rares [MarMaRa]
Marseille medical genetics - Centre de génétique médicale de Marseille [MMG]
Romanet, Pauline [Auteur]
Laboratoire de Biochimie et de Biologie Moléculaire [Hôpital de la Conception - APHM]
Institut Marseille Maladies Rares [MarMaRa]
Marseille medical genetics - Centre de génétique médicale de Marseille [MMG]
Laboratoire de Biochimie et de Biologie Moléculaire [Hôpital de la Conception - APHM]
Institut Marseille Maladies Rares [MarMaRa]
Marseille medical genetics - Centre de génétique médicale de Marseille [MMG]
Mougel, Grégory [Auteur]
Laboratoire de Biochimie et de Biologie Moléculaire [Hôpital de la Conception - APHM]
Institut Marseille Maladies Rares [MarMaRa]
Marseille medical genetics - Centre de génétique médicale de Marseille [MMG]
Coppin, Lucie [Auteur]

Hétérogénéité, Plasticité et Résistance aux Thérapies des Cancers = Cancer Heterogeneity, Plasticity and Resistance to Therapies - UMR 9020 - U 1277 [CANTHER]
Haissaguerre, Magalie [Auteur]
Le Collen, Lauriane [Auteur]
Laboratoire de Microbiologie
Mohamed, Amira [Auteur]
Hôpital de la Conception [CHU - APHM] [LA CONCEPTION]
Klein, Marc [Auteur]
Odou, Marie-Françoise [Auteur]
Tabarin, Antoine [Auteur]
Brixi, Hedia [Auteur]
Hôpital universitaire Robert Debré [Reims] [CHU Reims]
Cuny, Thomas [Auteur]
Service d'endocrinologie, diabète, maladies métaboliques [Hôpital de la Conception - APHM]
Institut Marseille Maladies Rares [MarMaRa]
Marseille medical genetics - Centre de génétique médicale de Marseille [MMG]
Delemer, Brigitte [Auteur]
Barlier, Anne [Auteur]
Laboratoire de Biochimie et de Biologie Moléculaire [Hôpital de la Conception - APHM]
Institut Marseille Maladies Rares [MarMaRa]
Marseille medical genetics - Centre de génétique médicale de Marseille [MMG]
Romanet, Pauline [Auteur]
Laboratoire de Biochimie et de Biologie Moléculaire [Hôpital de la Conception - APHM]
Institut Marseille Maladies Rares [MarMaRa]
Marseille medical genetics - Centre de génétique médicale de Marseille [MMG]
Journal title :
Endocrine Connections
Publisher :
BioScientifica Ltd.
Publication date :
2022-11-01
HAL domain(s) :
Sciences du Vivant [q-bio]/Biochimie, Biologie Moléculaire
Sciences du Vivant [q-bio]/Génétique
Sciences du Vivant [q-bio]/Médecine humaine et pathologie/Endocrinologie et métabolisme
Sciences du Vivant [q-bio]/Génétique
Sciences du Vivant [q-bio]/Médecine humaine et pathologie/Endocrinologie et métabolisme
English abstract : [en]
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 ...
Show more >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.Show less >
Show more >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.Show less >
Language :
Anglais
Popular science :
Non
Source :
Submission date :
2024-02-17T03:35:17Z
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