{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,16]],"date-time":"2026-03-16T11:31:58Z","timestamp":1773660718850,"version":"3.50.1"},"reference-count":0,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2016,10,1]],"date-time":"2016-10-01T00:00:00Z","timestamp":1475280000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2016,10,1]],"date-time":"2016-10-01T00:00:00Z","timestamp":1475280000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pathobiology"],"published-print":{"date-parts":[[2017]]},"abstract":"Hotspot activating mutations of the telomerase reverse transcriptase<i> (hTERT)<\/i> promoter region were recently described in several tumor types. These mutations lead to enhanced expression of telomerase, being responsible for telomere maintenance and allowing continuous cell division. Additionally, there are alternative telomere maintenance mechanisms, associated with histone H3 mutations, responsible for disrupting the histone code and affecting the regulation of transcription. Here, we investigated the clinical relevance of these mechanistically related molecules in medulloblastoma. Sixty-nine medulloblastomas, formalin fixed and paraffin embedded, from a cohort of patients aged 1.5-70 years, were used to investigate the hotspot mutations of the <i>hTERT<\/i> promoter region, i.e. <i>H3F3A<\/i> and <i>HIST1H3B<\/i>, using Sanger sequencing. We successfully sequenced <i>hTERT<\/i> in all 69 medulloblastoma samples and identified a total of 19 mutated cases (27.5%). c.-124:G>A and c.-146:G>A mutations were detected, respectively, in 16 and 3 samples. Similar to previous reports, <i>hTERT<\/i> mutations were more frequent in older patients (p < 0.0001), being found only in 5 patients <20 years of age. In addition, <i>hTERT-<\/i>mutated tumors were more frequently recurrent (p = 0.026) and <i>hTERT<\/i> mutations were significantly enriched in tumors located in the right cerebellar hemisphere (p = 0.039). No mutations were found on the <i>H3F3A<\/i> or <i>HIST1H3B <\/i>genes. <i>hTERT<\/i> promoter mutations are frequent in medulloblastoma and are associated with older patients, prone to recurrence and located in the right cerebellar hemisphere. On the other hand, histone 3 mutations do not seem to be present in medulloblastoma.<\/jats:p>","DOI":"10.1159\/000448922","type":"journal-article","created":{"date-parts":[[2016,9,30]],"date-time":"2016-09-30T21:01:39Z","timestamp":1475269299000},"page":"108-113","source":"Crossref","is-referenced-by-count":8,"title":["Study of <b><i>hTERT<\/i><\/b> and Histone 3 Mutations in Medulloblastoma"],"prefix":"10.1159","volume":"84","author":[{"given":"Marta","family":"Viana-Pereira","sequence":"first","affiliation":[]},{"given":"Gisele Caravina","family":"Almeida","sequence":"additional","affiliation":[]},{"given":"Jo\u00e3o Norberto","family":"Stavale","sequence":"additional","affiliation":[]},{"given":"Susana","family":"Malheiro","sequence":"additional","affiliation":[]},{"given":"Carlos","family":"Clara","sequence":"additional","affiliation":[]},{"given":"Patr\u00edcia","family":"Lobo","sequence":"additional","affiliation":[]},{"given":"Jos\u00e9","family":"Pimentel","sequence":"additional","affiliation":[]},{"given":"Rui Manuel","family":"Reis","sequence":"additional","affiliation":[]}],"member":"127","published-online":{"date-parts":[[2016,10,1]]},"container-title":["Pathobiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/448922","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/448922","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/448922","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T17:07:45Z","timestamp":1745428065000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000448922"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,10,1]]},"references-count":0,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2017,2,14]]}},"URL":"https:\/\/doi.org\/10.1159\/000448922","archive":["Portico"],"relation":{},"ISSN":["1015-2008","1423-0291"],"issn-type":[{"value":"1015-2008","type":"print"},{"value":"1423-0291","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,10,1]]}}}