{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T22:50:33Z","timestamp":1789426233702,"version":"build-2803163510"},"reference-count":0,"publisher":"Bioscientifica","issue":"6","content-domain":{"domain":["ec.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2020,6]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      Multiple endocrine neoplasia type 2A (MEN 2A) is a rare syndrome caused by\n                      <jats:italic>RET<\/jats:italic>\n                      germline mutations and has been associated with primary hyperparathyroidism (PHPT) in up to 30% of cases. Recommendations on\n                      <jats:italic>RET<\/jats:italic>\n                      screening in patients with apparently sporadic PHPT are unclear. We aimed to estimate the prevalence of cases presenting with PHPT as first manifestation among MEN 2A index cases and to characterize the former cases.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design and methods<\/jats:title>\n                    <jats:p>An international retrospective multicenter study of 1085 MEN 2A index cases. Experts from MEN 2 centers all over the world were invited to participate. A total of 19 centers in 17 different countries provided registry data of index cases followed from 1974 to 2017.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Ten cases presented with PHPT as their first manifestation of MEN 2A, yielding a prevalence of 0.9% (95% CI: 0.4\u20131.6). 9\/10 cases were diagnosed with medullary thyroid carcinoma (MTC) in relation to parathyroid surgery and 1\/10 was diagnosed 15 years after parathyroid surgery. 7\/9 cases with full TNM data were node-positive at MTC diagnosis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Our data suggest that the prevalence of MEN 2A index cases that present with PHPT as their first manifestation is very low. The majority of index cases presenting with PHPT as first manifestation have synchronous MTC and are often node-positive. Thus, our observations suggest that not performing\n                      <jats:italic>RET<\/jats:italic>\n                      mutation analysis in patients with apparently sporadic PHPT would result in an extremely low false-negative rate, if no other MEN 2A component, specifically MTC, are found during work-up or resection of PHPT.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1530\/ec-20-0163","type":"journal-article","created":{"date-parts":[[2020,5,6]],"date-time":"2020-05-06T14:59:36Z","timestamp":1588777176000},"page":"489-497","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-10","source":"Crossref","is-referenced-by-count":36,"title":["Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international multicenter study"],"prefix":"10.1530","volume":"9","author":[{"given":"Louise V\u00f8lund","family":"Larsen","sequence":"first","affiliation":[{"name":"1Department of ORL Head & Neck Surgery and Audiology, Odense University Hospital, Odense, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Delphine","family":"Mirebeau-Prunier","sequence":"additional","affiliation":[{"name":"2Laboratoire de Biochimie et Biologie Mol\u00e9culaire, CHU Angers, Universit\u00e9 d\u2019Angers, UMR CNRS 6015, INSERM U1083, MITOVASC, Angers, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsuneo","family":"Imai","sequence":"additional","affiliation":[{"name":"3Department of Breast & Endocrine Surgery, National Hospital Organization, Higashinagoya National Hospital, Nagoya, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Alvarez-Escola","sequence":"additional","affiliation":[{"name":"4Endocrinology and Nutrition Department, University Hospital \u2018La Paz\u2019, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kornelia","family":"Hasse-Lazar","sequence":"additional","affiliation":[{"name":"5Department of Nuclear Medicine and Endocrine Oncology, Maria Sklodowska-Curie National Research Institute of Oncology, Gliwice Branch, Gliwice, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simona","family":"Censi","sequence":"additional","affiliation":[{"name":"6Endocrinology Unit, Department of Medicine (DIMED), University of Padua, Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luciana A","family":"Castroneves","sequence":"additional","affiliation":[{"name":"7Department of Endocrinology, Endocrine Oncology Unit, Instituto do Cancer do Estado de S\u00e3o Paulo, Faculdade de Medicina da Universidade de S\u00e3o Paulo, S\u00e3o Paulo, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akihiro","family":"Sakurai","sequence":"additional","affiliation":[{"name":"8Department of Medical Genetics and Genomics, Sapporo Medical University School of Medicine, Sapporo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minoru","family":"Kihara","sequence":"additional","affiliation":[{"name":"9Department of Surgery, Kuma Hospital, Kobe, Hyogo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiyomi","family":"Horiuchi","sequence":"additional","affiliation":[{"name":"10Department of Breast and Endocrine Surgery, Tokyo Women\u2019s Medical University, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V\u00e9ronique Dorine","family":"Barbu","sequence":"additional","affiliation":[{"name":"11AP-HP, Sorbonne Universit\u00e9, Laboratoire Commun de Biologie et G\u00e9n\u00e9tique Mol\u00e9culaires, H\u00f4pital St Antoine & INSERM CRSA, Paris, France"},{"name":"12R\u00e9seau TenGen, Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francoise","family":"Borson-Chazot","sequence":"additional","affiliation":[{"name":"12R\u00e9seau TenGen, Marseille, France"},{"name":"13F\u00e9d\u00e9ration d\u2019Endocrinologie, Hospices Civils de Lyon, Universit\u00e9 Lyon 1, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Paule","family":"Gimenez-Roqueplo","sequence":"additional","affiliation":[{"name":"12R\u00e9seau TenGen, Marseille, France"},{"name":"14Service de G\u00e9n\u00e9tique, AP-HP, H\u00f4pital europ\u00e9en Georges Pompidou, Paris, France"},{"name":"15Universit\u00e9 de Paris, PARCC, INSERM, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Pigny","sequence":"additional","affiliation":[{"name":"12R\u00e9seau TenGen, Marseille, France"},{"name":"16Laboratoire de Biochimie et Oncologie Mol\u00e9culaire, CHU Lille, Lille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephane","family":"Pinson","sequence":"additional","affiliation":[{"name":"12R\u00e9seau TenGen, Marseille, France"},{"name":"17Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, CHU Lyon, Lyon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nelson","family":"Wohllk","sequence":"additional","affiliation":[{"name":"18Endocrine Section, Hospital del Salvador, Santiago de Chile, Department of Medicine, University of Chile, Santiago, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charis","family":"Eng","sequence":"additional","affiliation":[{"name":"19Genomic Medicine Institute, Lerner Research Institute and Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berna Imge","family":"Aydogan","sequence":"additional","affiliation":[{"name":"20Department of Endocrinology And Metabolic Diseases, Ankara University School of Medicine, Ankara, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dhananjaya","family":"Saranath","sequence":"additional","affiliation":[{"name":"21Department of Research Studies & Additional Projects, Cancer Patients Aid Association, Dr. Vithaldas Parmar Research & Medical Centre, Worli, Mumbai, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarka","family":"Dvorakova","sequence":"additional","affiliation":[{"name":"22Department of Molecular Endocrinology, Institute of Endocrinology, Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frederic","family":"Castinetti","sequence":"additional","affiliation":[{"name":"23Aix-Marseille Universit\u00e9, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM), U1251, Marseille Medical Genetics (MMG), Marseille, France"},{"name":"24Department of Endocrinology, Assistance Publique-H\u00f4pitaux de Marseille (AP-HM), H\u00f4pital de la Conception, Centre de R\u00e9f\u00e9rence des Maladies Rares de l\u2019hypophyse HYPO, Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Attila","family":"Patocs","sequence":"additional","affiliation":[{"name":"25HAS-SE Momentum Hereditary Endocrine Tumors Research Group, Semmelweis University, Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Damijan","family":"Bergant","sequence":"additional","affiliation":[{"name":"26Department of Surgical Oncology, Institute of Oncology, Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thera P","family":"Links","sequence":"additional","affiliation":[{"name":"27Department of Endocrinology, University of Groningen, University Medical Center Groningen, Groningen, Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariola","family":"Peczkowska","sequence":"additional","affiliation":[{"name":"28Department of Hypertension, Institute of Cardiology, Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana O","family":"Hoff","sequence":"additional","affiliation":[{"name":"27Department of Endocrinology, University of Groningen, University Medical Center Groningen, Groningen, Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caterina","family":"Mian","sequence":"additional","affiliation":[{"name":"6Endocrinology Unit, Department of Medicine (DIMED), University of Padua, Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Trisha","family":"Dwight","sequence":"additional","affiliation":[{"name":"29Cancer Genetics, Kolling Institute, Royal North Shore Hospital and University of Sydney, Sydney, New South Wales, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Jarzab","sequence":"additional","affiliation":[{"name":"30Department of Nuclear Medicine and Endocrine Oncology, Maria Sklodowska-Curie National Research Institute of Oncology, Gliwice Branch, Gliwice, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hartmut P H","family":"Neumann","sequence":"additional","affiliation":[{"name":"31Section for Preventive Medicine, Medical Center-University of Freiburg, Faculty of Medicine, Albert Ludwigs-University of Freiburg, Freiburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mercedes","family":"Robledo","sequence":"additional","affiliation":[{"name":"32Hereditary Endocrine Cancer Group, Spanish National Cancer Research Center (CNIO), Madrid, Spain"},{"name":"33Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinya","family":"Uchino","sequence":"additional","affiliation":[{"name":"34Department of Endocrine Surgery, Noguchi Thyroid Clinic and Hospital Foundation, Beppu, Oita, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Barlier","sequence":"additional","affiliation":[{"name":"12R\u00e9seau TenGen, Marseille, France"},{"name":"35Aix Marseille Univ, APHM, INSERM, MMG, Laboratory of Molecular Biology, Hospital La Conception, Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Godballe","sequence":"additional","affiliation":[{"name":"1Department of ORL Head & Neck Surgery and Audiology, Odense University Hospital, Odense, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jes Sloth","family":"Mathiesen","sequence":"additional","affiliation":[{"name":"1Department of ORL Head & Neck Surgery and Audiology, Odense 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Connections"],"original-title":[],"link":[{"URL":"https:\/\/ec.bioscientifica.com\/view\/journals\/ec\/9\/6\/EC-20-0163.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/ec.bioscientifica.com\/downloadpdf\/journals\/ec\/9\/6\/EC-20-0163.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T13:44:01Z","timestamp":1784555041000},"score":1,"resource":{"primary":{"URL":"http:\/\/journals.bioscientifica.com\/ec\/article\/9\/6\/489-497\/680"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,6]]},"references-count":0,"journal-issue":{"issue":"6"},"URL":"https:\/\/doi.org\/10.1530\/ec-20-0163","relation":{},"ISSN":["2049-3614"],"issn-type":[{"value":"2049-3614","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,6]]}}}