{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,19]],"date-time":"2026-04-19T07:31:25Z","timestamp":1776583885909,"version":"3.51.2"},"reference-count":67,"publisher":"MDPI AG","issue":"20","license":[{"start":{"date-parts":[[2021,10,18]],"date-time":"2021-10-18T00:00:00Z","timestamp":1634515200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Parathyroid tumors are rare endocrine neoplasms affecting 0.1\u20130.3% of the general population, including benign parathyroid adenomas (PAs; about 98% of cases), intermediate atypical parathyroid adenomas (aPAs; 1.2\u20131.3% of cases) and malignant metastatic parathyroid carcinomas (PCs; less than 1% of cases). These tumors are characterized by a variable spectrum of clinical phenotypes and an elevated cellular, histological and molecular heterogeneity that make it difficult to pre-operatively distinguish PAs, aPAs and PCs. Thorough knowledge of genetic, epigenetic, and molecular signatures, which characterize different parathyroid tumor subtypes and drive different tumorigeneses, is a key step to identify potential diagnostic biomarkers able to distinguish among different parathyroid neoplastic types, as well as provide novel therapeutic targets and strategies for these rare neoplasms, which are still a clinical and therapeutic challenge. Here, we review the current knowledge on gene mutations and epigenetic changes that have been associated with the development of different clinical types of parathyroid tumors, both in familial and sporadic forms of these endocrine neoplasms.<\/jats:p>","DOI":"10.3390\/ijms222011206","type":"journal-article","created":{"date-parts":[[2021,10,19]],"date-time":"2021-10-19T22:52:47Z","timestamp":1634683967000},"page":"11206","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":28,"title":["Parathyroid Tumors: Molecular Signatures"],"prefix":"10.3390","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3678-4922","authenticated-orcid":false,"given":"Francesca","family":"Marini","sequence":"first","affiliation":[{"name":"Department of Experimental and Clinical Biomedical Sciences, University of Florence, 50139 Florence, Italy"},{"name":"F.I.R.M.O. Fondazione Italiana Ricerca sulle Malattie dell\u2019Osso (Italian Foundation for the Research on Bone Diseases), 50141 Florence, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8576-9606","authenticated-orcid":false,"given":"Francesca","family":"Giusti","sequence":"additional","affiliation":[{"name":"Department of Experimental and Clinical Biomedical Sciences, University of Florence, 50139 Florence, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teresa","family":"Iantomasi","sequence":"additional","affiliation":[{"name":"Department of Experimental and Clinical Biomedical Sciences, University of Florence, 50139 Florence, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8741-0592","authenticated-orcid":false,"given":"Maria Luisa","family":"Brandi","sequence":"additional","affiliation":[{"name":"F.I.R.M.O. Fondazione Italiana Ricerca sulle Malattie dell\u2019Osso (Italian Foundation for the Research on Bone Diseases), 50141 Florence, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,10,18]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1159\/000345675","article-title":"Genetic Defects Associated with Familial and Sporadic Hyperparathyroidism","volume":"41","author":"Hendy","year":"2013","journal-title":"Front. Horm. Res."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"R441","DOI":"10.1530\/ERC-19-0135","article-title":"Atypical parathyroid adenomas: Challenging lesions in the differential diagnosis of endocrine tumors","volume":"26","author":"Cetani","year":"2019","journal-title":"Endocr. Relat. 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