{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T01:08:40Z","timestamp":1773277720430,"version":"3.50.1"},"reference-count":35,"publisher":"Oxford University Press (OUP)","issue":"1","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2017,1]]},"abstract":"<jats:sec><jats:title>Objective<\/jats:title><jats:p>The aim of this study is to evaluate the frequency and molecular characteristics of<jats:italic>TERT<\/jats:italic>p mutations in thyroid adenomas and carcinomas occurring in the low-dose radiation exposure tinea capitis setting.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design and methods<\/jats:title><jats:p>Twenty-seven patients with 34 well-differentiated thyroid carcinomas and 28 patients with 29 follicular adenomas diagnosed in a Portuguese tinea capitis cohort were studied. Blood samples were obtained from all the patients. Screening for<jats:italic>TERT<\/jats:italic>p mutations was performed by PCR amplification followed by Sanger sequencing. A series of 33 sporadic thyroid adenomas was used as control.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p><jats:italic>TERT<\/jats:italic>p mutations were detected in six of the 28 patients with adenoma (21.4%) and in four of the 27 patients with carcinoma (14.8%). Three tumours (two carcinomas and one adenoma) had the tandem mutation \u2212124\/\u2212125 GG&gt;AA (30.0%), whereas the remaining seven had the \u2212124G\u2009&gt;\u2009A. The 20.7% frequency of<jats:italic>TERT<\/jats:italic>p mutations in adenomas contrasts with the absence of mutations in the adenomas from the control group and from most series on record, whereas the one found in carcinomas (11.8%) is similar to those reported in the literature for sporadic carcinomas.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p><jats:italic>TERT<\/jats:italic>p mutations, including the tandem mutation \u2212124\/\u2212125 GG&gt;AA not described previously in thyroid tumours, appear to represent a genetic signature for thyroid tumours in patients submitted to low-dose X-ray irradiation. The high frequency of<jats:italic>TERT<\/jats:italic>p mutations in the adenomas of our cohort contrasts with their absence in sporadically occurring, as well as in adenomas of the Chernobyl series.<\/jats:p><\/jats:sec>","DOI":"10.1530\/eje-16-0740","type":"journal-article","created":{"date-parts":[[2016,10,20]],"date-time":"2016-10-20T02:33:54Z","timestamp":1476930834000},"page":"49-55","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":12,"title":["TERT promoter mutations: a genetic signature of benign and malignant thyroid tumours occurring in the context of tinea capitis irradiation"],"prefix":"10.1093","volume":"176","author":[{"given":"Paula","family":"Boaventura","sequence":"first","affiliation":[{"name":"1IPATIMUP \u2013 Institute of Molecular Pathology and Immunology of the University of PortoPorto, Portugal"},{"name":"2i3S - Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fadeUniversidade do Porto, Porto, Portugal"}]},{"given":"Rui","family":"Batista","sequence":"additional","affiliation":[{"name":"1IPATIMUP \u2013 Institute of Molecular Pathology and Immunology of the University of PortoPorto, Portugal"},{"name":"2i3S - Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fadeUniversidade do Porto, Porto, Portugal"}]},{"given":"Ana","family":"Pestana","sequence":"additional","affiliation":[{"name":"1IPATIMUP \u2013 Institute of Molecular Pathology and Immunology of the University of PortoPorto, Portugal"},{"name":"2i3S - Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fadeUniversidade do Porto, Porto, Portugal"}]},{"given":"Marta","family":"Reis","sequence":"additional","affiliation":[{"name":"1IPATIMUP \u2013 Institute of Molecular Pathology and Immunology of the University of PortoPorto, Portugal"},{"name":"2i3S - Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fadeUniversidade do Porto, Porto, Portugal"}]},{"given":"Ad\u00e9lia","family":"Mendes","sequence":"additional","affiliation":[{"name":"1IPATIMUP \u2013 Institute of Molecular Pathology and Immunology of the University of PortoPorto, Portugal"},{"name":"2i3S - Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fadeUniversidade do Porto, Porto, Portugal"}]},{"given":"Catarina","family":"Eloy","sequence":"additional","affiliation":[{"name":"1IPATIMUP \u2013 Institute of Molecular Pathology and Immunology of the University of PortoPorto, Portugal"},{"name":"2i3S - Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fadeUniversidade do Porto, Porto, Portugal"}]},{"given":"Manuel","family":"Sobrinho-Sim\u00f5es","sequence":"additional","affiliation":[{"name":"1IPATIMUP \u2013 Institute of Molecular Pathology and Immunology of the University of PortoPorto, Portugal"},{"name":"2i3S - Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fadeUniversidade do Porto, Porto, Portugal"},{"name":"3Faculty of MedicineUniversity of Porto, Porto, Portugal"},{"name":"4Department of PathologyCentro Hospitalar de S. 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