{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T06:19:01Z","timestamp":1790144341604,"version":"4.0.1"},"reference-count":29,"publisher":"Bioscientifica","issue":"11","license":[{"start":{"date-parts":[[2022,11,1]],"date-time":"2022-11-01T00:00:00Z","timestamp":1667260800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["ec.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,11,1]]},"abstract":"<jats:sec>\n                    <jats:title>Purpose<\/jats:title>\n                    <jats:p>\n                      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\n                      <jats:italic>MEN1<\/jats:italic>\n                      mosaicism, using blood DNA, in MEN1-suspected patients but without\n                      <jats:italic>MEN1<\/jats:italic>\n                      pathogenic variants (PV) in a heterozygous state.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Digital targeted NGS, including unique molecular identifiers (UMIs), was performed in routine practice, and the analytic performance of this method was verified.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Among a cohort of 119 patients harboring from 2 to 5 MEN1 lesions, we identified 3 patients with\n                      <jats:italic>MEN1<\/jats:italic>\n                      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.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      We report here three new cases with\n                      <jats:italic>MEN1<\/jats:italic>\n                      mosaicism. This study examined the performance of UMI in the diagnosis of\n                      <jats:italic>MEN1<\/jats:italic>\n                      mosaicism in routine practice, and our results underline that the frequency of mosaicism is probably underestimated in patients with suspected MEN1.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1530\/ec-22-0093","type":"journal-article","created":{"date-parts":[[2022,9,16]],"date-time":"2022-09-16T12:30:30Z","timestamp":1663331430000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-10","source":"Crossref","is-referenced-by-count":22,"title":["Systematic detection of mosaicism by using digital NGS reveals three new MEN1 mosaicisms"],"prefix":"10.1530","volume":"11","author":[{"given":"Arnaud","family":"Lagarde","sequence":"first","affiliation":[{"name":"Aix Marseille Univ, APHM, INSERM, MMG, Laboratory of Molecular Biology Hospital La Conception, Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gr\u00e9gory","family":"Mougel","sequence":"additional","affiliation":[{"name":"Aix Marseille Univ, APHM, INSERM, MMG, Laboratory of Molecular Biology Hospital La Conception, Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucie","family":"Coppin","sequence":"additional","affiliation":[{"name":"Univ. Lille, CNRS, Inserm, CHU Lille, UMR9020-U1277 \u2013 CANTHER \u2013 Cancer \u2013 Heterogeneity Plasticity and Resistance to Therapies, Lille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magalie","family":"Haissaguerre","sequence":"additional","affiliation":[{"name":"Service d\u2019Endocrinologie, Centre Hospitalier Universitaire, H\u00f4pital du Haut Lev\u00eaque, Pessac, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauriane","family":"Le Collen","sequence":"additional","affiliation":[{"name":"Endocrinology, Diabetology and Nutrition Unit, University Hospital of Reims, Reims, France"},{"name":"Inserm\/CNRS UMR 1283\/8199, Pasteur Institute of Lille, EGID, Lille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amira","family":"Mohamed","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Biology, Hospital La Conception, APHM, Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Klein","sequence":"additional","affiliation":[{"name":"Service Endocrinologie, CHU de Nancy, H\u00f4pital de Brabois, Vandoeuvre-l\u00e8s-Nancy, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6120-1098","authenticated-orcid":true,"given":"Marie-Fran\u00e7oise","family":"Odou","sequence":"additional","affiliation":[{"name":"CHU Lille, Service de Biochimie et Biologie Mol\u00e9culaire \u2018Hormonologie, M\u00e9tabolisme-Nutrition, Oncologie\u2019, Lille, France"},{"name":"Univ. Lille, Inserm, CHU Lille, U1286 \u2013 Infinite \u2013 Institute for Translational Research in Inflammation, Lille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antoine","family":"Tabarin","sequence":"additional","affiliation":[{"name":"Service d\u2019Endocrinologie, Centre Hospitalier Universitaire, H\u00f4pital du Haut Lev\u00eaque, Pessac, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hedia","family":"Brixi","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology and Digestive Oncology, Reims University Hospital, Reims, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8440-0030","authenticated-orcid":true,"given":"Thomas","family":"Cuny","sequence":"additional","affiliation":[{"name":"Aix Marseille Univ, APHM, INSERM, MMG, Department of Endocrinology, Hospital La Conception, Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brigitte","family":"Delemer","sequence":"additional","affiliation":[{"name":"Endocrinology, Diabetology and Nutrition Unit, University Hospital of Reims, Reims, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Barlier","sequence":"additional","affiliation":[{"name":"Aix Marseille Univ, APHM, INSERM, MMG, Laboratory of Molecular Biology Hospital La Conception, Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1775-9569","authenticated-orcid":true,"given":"Pauline","family":"Romanet","sequence":"additional","affiliation":[{"name":"Aix Marseille Univ, APHM, INSERM, MMG, Laboratory of Molecular Biology Hospital La Conception, Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"bib1","series-title":"Science","doi-asserted-by":"publisher","first-page":"404","DOI":"10.1126\/science.276.5311.404","article-title":"Positional cloning of the gene for multiple endocrine neoplasia-type 1","volume":"276","author":"Chandrasekharappa","year":"1997","unstructured":"Chandrasekharappa SCGuru SCManickam POlufemi SECollins FSEmmert-Buck MRDebelenko LVZhuang ZLubensky IALiotta LAPositional cloning of the gene for multiple endocrine neoplasia-type 1. 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