{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T08:42:04Z","timestamp":1768812124383,"version":"3.49.0"},"reference-count":20,"publisher":"Wiley","license":[{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BioMed Research International"],"published-print":{"date-parts":[[2013]]},"abstract":"<jats:p>High-throughput DNA sequence analysis was used to screen for TET2 mutations in peripheral blood derived DNA from 97 patients with BCR-ABL-negative myeloproliferative neoplasms (MPNs). Overall six mutations in the coding region of the gene were identified in 7 patients with an overall mutational frequency of 7.2%. In polycythemia vera patients (<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M1\"><mml:mi>n<\/mml:mi><mml:mo>=<\/mml:mo><mml:mn>25<\/mml:mn><\/mml:math>) 2 mutations were identified (8%), and in those with essential thrombocythemia (<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M2\"><mml:mi>n<\/mml:mi><mml:mo>=<\/mml:mo><mml:mn>55<\/mml:mn><\/mml:math>) 2 mutations (3.6%); in those with unclassifiable MPN (<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M3\"><mml:mi>n<\/mml:mi><mml:mo>=<\/mml:mo><mml:mn>8<\/mml:mn><\/mml:math>) 3 mutations (37.5%). No primary myelofibrosis patients (<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M4\"><mml:mi>n<\/mml:mi><mml:mo>=<\/mml:mo><mml:mn>6<\/mml:mn><\/mml:math>) harboured TET2 mutations. Three unreported mutations were identified (p.P177fs, p.C1298del, and p.P411del), the first two in patients with unclassifiable MPN, the last in a patient with essential thrombocythemia. On multivariate analysis the diagnosis of an unclassifiable MPN was significantly related to the presence of TET2 mutations (<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M5\"><mml:mi>P<\/mml:mi><mml:mo>=<\/mml:mo><mml:mn>0.02<\/mml:mn><\/mml:math>; OR: 2.81; 95% CI 1.11\u20137.06). We conclude that TET2 mutations occur in both JAK2 V617F-positive and -negative MPNs and are more frequent in MPN-U patients. This could represent the biological link between the different classes of myeloid malignancies.<\/jats:p>","DOI":"10.1155\/2013\/929840","type":"journal-article","created":{"date-parts":[[2013,5,25]],"date-time":"2013-05-25T17:00:39Z","timestamp":1369501239000},"page":"1-5","source":"Crossref","is-referenced-by-count":8,"title":["TET2 Mutations in Ph-Negative Myeloproliferative Neoplasms: Identification of Three Novel Mutations and Relationship with Clinical and Laboratory Findings"],"prefix":"10.1155","volume":"2013","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4415-2906","authenticated-orcid":true,"given":"Andrea","family":"Patriarca","sequence":"first","affiliation":[{"name":"Bleeding and Thrombotic Disorders Unit, Department of Hematology, Ospedale Civile dello \u201cSpirito Santo\u201d, 65124 Pescara, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Donatella","family":"Colaizzo","sequence":"additional","affiliation":[{"name":"Atherosclerosis and Thrombosis Unit, IRCCS \u201cCasa Sollievo della Sofferenza\u201d, 71013 San Giovanni Rotondo, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gianluca","family":"Tiscia","sequence":"additional","affiliation":[{"name":"Atherosclerosis and Thrombosis Unit, IRCCS \u201cCasa Sollievo della Sofferenza\u201d, 71013 San Giovanni Rotondo, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raffaele","family":"Spadano","sequence":"additional","affiliation":[{"name":"Bleeding and Thrombotic Disorders Unit, Department of Hematology, Ospedale Civile dello \u201cSpirito Santo\u201d, 65124 Pescara, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia","family":"Di Zacomo","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Biology, Department of Hematology, Ospedale Civile dello \u201cSpirito Santo\u201d, 65124 Pescara, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Spadano","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Biology, Department of Hematology, Ospedale Civile dello \u201cSpirito Santo\u201d, 65124 Pescara, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ida","family":"Villanova","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Biology, Department of Hematology, Ospedale Civile dello \u201cSpirito Santo\u201d, 65124 Pescara, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maurizio","family":"Margaglione","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Foggia University, 71100 Foggia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elvira","family":"Grandone","sequence":"additional","affiliation":[{"name":"Atherosclerosis and Thrombosis Unit, IRCCS \u201cCasa Sollievo della Sofferenza\u201d, 71013 San 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