{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T15:17:30Z","timestamp":1789139850529,"version":"build-2803163510"},"reference-count":123,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T00:00:00Z","timestamp":1782432000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Multiple endocrine neoplasia (MEN) syndromes are rare hereditary disorders characterized by the development of multiple endocrine and non-endocrine tumours with variable penetrance and age-dependent expression. Although uncommon, these syndromes are highly relevant from both biological and clinical perspectives, as they exemplify the direct link between germline genetic alterations and tumorigenesis. Early tumour detection is critical in MEN syndromes because many associated neoplasms\u2014such as medullary thyroid carcinoma (MTC), pancreatic neuroendocrine tumours (NETs), pheochromocytomas, and parathyroid disease\u2014may remain clinically silent for prolonged periods while retaining malignant potential. Delayed diagnosis is associated with advanced disease and worse outcomes, whereas early identification enables curative or organ-preserving interventions. This clinical challenge has driven the development of integrated diagnostic strategies combining genetic testing, biochemical markers, and imaging. Among these, genetic testing plays a pivotal role, providing definitive diagnosis, enabling family screening, and guiding risk-adapted surveillance. The aim of this review is to provide a comprehensive synthesis of genetically driven diagnostics in MEN syndromes, outlining the current state of the art and future directions in precision medicine.<\/jats:p>","DOI":"10.3390\/genes17070738","type":"journal-article","created":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T05:58:04Z","timestamp":1782799084000},"page":"738","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Molecular, Biochemical, and Bioimaging Markers of MEN Syndromes"],"prefix":"10.3390","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1946-2128","authenticated-orcid":false,"given":"Petra","family":"Petranovi\u0107 Ov\u010dari\u010dek","sequence":"first","affiliation":[{"name":"Department of Oncology and Nuclear Medicine, University Hospital Center Sestre Milosrdnice, Vinogradska Cesta 29, 10000 Zagreb, Croatia"},{"name":"School of Medicine, University of Zagreb, \u0160alata 3, 10000 Zagreb, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2113-8503","authenticated-orcid":false,"given":"Mariarosaria","family":"Calvello","sequence":"additional","affiliation":[{"name":"Division of Cancer Prevention and Genetics, European Institute of Oncology, IRCCS, 20141 Milan, Italy"},{"name":"Oncology Competence Center, Gruppo Ospedaliero Moncucco, Via Soldino 5, 6900 Lugano, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1161-0301","authenticated-orcid":false,"given":"Jacquelien J.","family":"Hillebrand","sequence":"additional","affiliation":[{"name":"Amsterdam University Medical Centers, 1105 AZ Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4849-3292","authenticated-orcid":false,"given":"Martin W.","family":"Huellner","sequence":"additional","affiliation":[{"name":"Department of Nuclear Medicine, University Hospital of Zurich, R\u00e4mistrasse 100, 8091 Zurich, Switzerland"},{"name":"Department of Nuclear Medicine, University of Zurich, Pestalozzistrasse 3, 8032 Zurich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2352-3587","authenticated-orcid":false,"given":"Murat","family":"Tuncel","sequence":"additional","affiliation":[{"name":"Department of Nuclear Medicine, Hacettepe University, 06230 Ankara, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9732-1094","authenticated-orcid":false,"given":"Egesta","family":"Lopci","sequence":"additional","affiliation":[{"name":"Nuclear Medicine Unit, IRCCS\u2013Humanitas Research Hospital, 20089 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Giovanella","sequence":"additional","affiliation":[{"name":"Department of Nuclear Medicine, University Hospital of Zurich, R\u00e4mistrasse 100, 8091 Zurich, Switzerland"},{"name":"Department of Nuclear Medicine, University of Zurich, Pestalozzistrasse 3, 8032 Zurich, Switzerland"},{"name":"Department of Nuclear Medicine and Thyroid Center, Gruppo Ospedaliero Moncucco, Via Soldino 5, 6900 Lugano, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,6,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1097\/00005792-196809000-00001","article-title":"Study of a Kindred with Pheochromocytoma, Medullary Thyroid Carcinoma, Hyperparathyroidism and Cushing\u2019s Disease: Multiple Endocrine Neoplasia, Type 2","volume":"47","author":"Steiner","year":"1968","journal-title":"Medicine"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1038\/363458a0","article-title":"Germ-Line Mutations of the RET Proto-Oncogene in Multiple Endocrine Neoplasia Type 2A","volume":"363","author":"Mulligan","year":"1993","journal-title":"Nature"},{"key":"ref_3","doi-asserted-by":"crossref","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","journal-title":"Science"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"15558","DOI":"10.1073\/pnas.0603877103","article-title":"Germ-Line Mutations in P27Kip1 Cause a Multiple Endocrine Neoplasia Syndrome in Rats and Humans","volume":"103","author":"Pellegata","year":"2006","journal-title":"Proc. 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