Department of Haematology, Ospedale S.Eugenio, University Tor Vergata, Rome, Italy.
Br J Haematol. 2010 May;149(3):383-7. doi: 10.1111/j.1365-2141.2010.08098.x. Epub 2010 Feb 8.
Nucleophosmin gene (NPM1) mutations characterize acute myeloid leukaemia (AML) with normal karyotype and frequently co-exist with FLT3 internal tandem duplications (ITD). We evaluated bcl-2, bax, NPM1 and FLT3-ITD in 222 AML patients. Bax/bcl-2 ratio >0.35 and NPM1 without FLT3-ITD were significantly associated (P = 0.0001). NPM1-mutated (mt)/FLT3-ITD negative patients showed a higher complete remission (CR) rate (90%, P = 0.0002) and a longer overall survival (OS, P = 0.00007). NPM1-mt/FLT3-ITD negative plus bax/bcl-2 > 0.35 subset showed a very high CR rate (96%), very long OS (P = 0.00005) and disease-free survival (P = 0.004). The favourable prognosis of NPM1-mt/FLT3-ITD negative patients might be explained by a higher bax/bcl-2 ratio.
核仁磷酸蛋白基因（NPM1）突变是具有正常核型的急性髓系白血病（AML）的特征，并且常与 FLT3 内部串联重复（ITD）共存。我们评估了 222 例 AML 患者的 bcl-2、bax、NPM1 和 FLT3-ITD。Bax/bcl-2 比值>0.35 和没有 FLT3-ITD 的 NPM1 显著相关（P = 0.0001）。NPM1 突变（mt）/FLT3-ITD 阴性患者的完全缓解（CR）率更高（90%，P = 0.0002），总生存期（OS）更长（P = 0.00007）。NPM1-mt/FLT3-ITD 阴性加上 bax/bcl-2 > 0.35 亚组的 CR 率非常高（96%），OS 和无病生存期也非常长（P = 0.00005 和 P = 0.004）。NPM1-mt/FLT3-ITD 阴性患者的良好预后可能与更高的 bax/bcl-2 比值有关。
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