{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T14:22:51Z","timestamp":1791037371547,"version":"4.1.0"},"reference-count":26,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2011,10,24]],"date-time":"2011-10-24T00:00:00Z","timestamp":1319414400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2012,1]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p><jats:italic>TET2<\/jats:italic> mutations have been identified in 10\u201325% of patients with myeloid malignancies, but <jats:italic>TET2<\/jats:italic> gene copy number alterations remain to be evaluated. We performed interphase and metaphase fluorescence <jats:italic>in situ<\/jats:italic> hybridization (FISH), using newly designed probes that span <jats:italic>TET2,<\/jats:italic> in 893 patients with acute myeloid leukaemia (AML) and chronic myeloid malignancies and validated the new assay by single nucleotide polymorphism arrays. Next\u2010generation sequencing for molecular <jats:italic>TET2<\/jats:italic> mutations was performed in 37\/50 del(<jats:italic>TET2<\/jats:italic>) patients. We identified <jats:italic>TET2<\/jats:italic> deletions in 50\/893 patients (26 males, 24 females; 44\u201387\u2003years) resulting in a 5\u00b76% frequency [22\/425 AML (5\u00b72%), 15\/217 chronic myelomonocytic leukaemia (CMML; 6\u00b79%), 9\/188 myelodysplastic syndromes (4\u00b78%), 4\/63 myeloproliferative neoplasms (6\u00b73%)]. Cytogenetic alterations (mostly complex) were detected in 35\/50 (70\u00b70%) of del(<jats:italic>TET2<\/jats:italic>) cases. <jats:italic>TET2<\/jats:italic> deletions were cytogenetically cryptic in 25\/50 (50\u00b70%). Sequencing detected <jats:italic>TET2<\/jats:italic>mut in 19\/37 (51\u00b74%) del(<jats:italic>TET2<\/jats:italic>) cases investigated, predominantly CMML (10\/14; 71\u00b74%). In <jats:italic>de novo<\/jats:italic> AML with intermediate cytogenetics, presence of any <jats:italic>TET2<\/jats:italic> alteration was related to worse median overall survival (347\u2003d vs. not reached; <jats:italic>P<\/jats:italic>\u2003=\u20030\u00b7052) and event\u2010free survival (164 vs. 457\u2003d; <jats:italic>P<\/jats:italic>\u2003=\u20030\u00b7024). <jats:italic>JAK2<\/jats:italic><jats:sup>V617F<\/jats:sup> was found in 6\/18 (33\u00b73%) del(<jats:italic>TET2<\/jats:italic>) cases analysed. Thus, <jats:italic>TET2<\/jats:italic> haploinsufficiency recurrently occurs in myeloid malignancies, frequently combined with <jats:italic>TET2<\/jats:italic> mutations on the remaining allele. The prognostic impact of del(<jats:italic>TET2<\/jats:italic>) in myeloid malignancies should be further evaluated.<\/jats:p>","DOI":"10.1111\/j.1365-2141.2011.08911.x","type":"journal-article","created":{"date-parts":[[2011,10,24]],"date-time":"2011-10-24T07:52:05Z","timestamp":1319442725000},"page":"67-75","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":29,"title":["<i>TET2<\/i> deletions are a recurrent but rare phenomenon in myeloid malignancies and are frequently accompanied by <i>TET2<\/i> mutations on the remaining 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