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NPM1而非FLT3-ITD基因突变可预测正常核型AML (NK-AML)或高危骨髓增生异常综合征(MDS)患者的早期白血病细胞清除和CR率
NPM1 but not FLT3-ITD mutations predict early blast cell clearance and CR rate in patients with normal karyotype AML (NK-AML) or high-risk myelodysplastic syndrome (MDS)
Schneider F, Hoster E, Unterhalt M  2009/8/14 20:26:54 
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Blood, 2009,
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Mutations in the NPM1 gene represent the most frequent genetic alterations in patients with acute myeloid leukemia (AML) and are associated with a favorable outcome. In 690 normal karyotype (NK) AML patients the complete remission rates (CRs) and the percentage of patients with adequate in vivo blast cell reduction 1 week after the end of the first induction cycle were significantly higher in NPM1+ (75% and 80%, respectively) than in NPM1− (57% and 57%, respectively) patients, but were unaffected by the FLT3-ITD status. Multivariate analyses revealed the presence of a NPM1 mutation as an independent positive prognostic factor for the achievement of an adequate day-16 blast clearance and a CR. In conclusion, NPM1+ blast cells show a high in vivo sensitivity toward induction chemotherapy irrespective of the FLT3-ITD mutation status. These findings provide insight into the pathophysiology and help to understand the favorable clinical outcome of patients with NPM1+ AML.
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解放军第二军医大学附属长海医院内分泌科

 

患者，男性，17岁，因“多食、体重增加10年伴智力障碍，发育不良”于2008年3月入院。患者足月顺产，出生后身材及智力发育较同龄人迟缓。9岁后因智力水平下降辍学在家，现智力水平同5岁儿童，生活尚可自理。10岁时因左侧隐睾，在当地医院行手术治疗（具体不详）。近10年每年体重增加7 kg，近2年体重共增加30 kg。无乏力、怕热、多汗等症状。既往史、个人史、家族史均无特殊。

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