Prognostic implication of gene mutations in patients with acute myeloid leukemia

在190例急性髓性白血病（AML）患者中，FLT3-ITD、NPM1和CEBPA基因突变分别占18%、23%和12%。伴有FLT3-ITD或无任何突变的AML患者临床预后较差。IDH1和IDH2突变分别占8%和10%。IDH2突变与较差的总生存率相关。在缺乏这些突变的患者中，我们在RNA结合蛋白TIS11D中发现了缺失突变。野生型TIS11D诱导生长抑制和S期检查点反应，而缺失突变体的作用减弱。根据这些结果，我们建立了AML的预后因素。

Of 190 patients with acute myeloid leukemia (AML), mutations in the FLT3-ITD, NPM1, and CEBPA genes were detected in 18%, 23% and 12%, respectively. AML patients with FLT3-ITD or without any mutation had a poor clinical outcome. In addition, 8% and 10% showed IDH1 and IDH2 mutations. IDH2 mutation was associated with a poor overall survival. Of patients lacking these mutations, we identified deletion mutations in the RNA binding protein TIS11D. Wild-type TIS11D induced growth inhibition and an S phase checkpoint response, while the deletion mutant showed a diminished effect. We establish the prognostic factors in AML according to these results.