TET2 mutation is an independent favorable prognostic factor in myelodysplastic syndromes (MDSs).

作者: Olivier Kosmider , Véronique Gelsi-Boyer , Meyling Cheok , Sophie Grabar , Véronique Della-Valle

DOI: 10.1182/BLOOD-2009-04-215814

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摘要: Oncogenic pathways underlying in the development of myelodysplastic syndromes (MDS) remain poorly characterized, but mutations ten-eleven translocation 2 (TET2) gene are frequently observed. In present work, we evaluated prognostic impact TET2 MDS. Frameshift, nonsense, missense mutations, or defects structure were identified 22 (22.9%) 96 patients (95% confidence interval [CI], 14.5-31.3 patients). Mutated and unmutated did not significantly differ initial clinical hematologic parameters. The 5-year OS was 76.9% CI, 49.2%-91.3%) mutated versus 18.3% 4.2%-41.1%) (P = .005). 3-year leukemia-free survival 89.3% 63.1%-97.0%) 63.7% 48.2%-75.4%) .035). univariate analysis (Cox proportional hazard model), absence mutation associated with a 4.1-fold 1.4-12.0-fold) increased risk death .009). multivariate adjusted for age, International Prognostic Scoring System, transfusion requirement, presence remained an independent factor favorable prognosis (hazard ratio, 5.2; 95% 1.6-16.3; P These results indicate that observed approximately 20% patients, irrespective World Health Organization French-American-British subtype, represent molecular marker good

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