Heterogeneous leukemic clones identified by NPM1 mutation analysis in patient with acute monocytic leukemia
Heterogeneous leukemic clones identified by NPM1 mutation analysis in patient with acute monocytic leukemia
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通过 NPM1 突变分析鉴定急性单核细胞白血病患者的异质性白血病克隆
DOI：
10.3109/10428194.2011.635860
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发表时间：
2012-05-01
影响因子：
2.6
通讯作者：
Li, Jian-Yong
中科院分区：
文献类型：
--
作者：
Qiao, Chun;Zhang, Run;Li, Jian-Yong
摘要NPM 1突变是急性髓细胞白血病（AML），尤其是正常核型AML（NK-AML）患者最常见的分子异常，在无FLT 3-ITD的情况下与良好的预后相关。与FLT 3-ITD、C/EBPα和c-Kit突变等其他分子异常一样，NPM 1突变通常表现为复发性分子异常。NPM 1突变通常用作AML患者预后评估的分子标志物。在这里，我们报告一个不同的案例。他首先被诊断为NPM 1突变阳性急性单核细胞白血病。然而，他没有获得缓解，但NPM 1突变在诱导化疗后显着变为阴性。最后，他在挽救化疗后获得完全缓解，NPM 1突变仍然是阴性的。据我们所知，这是一个罕见的情况下，根据世界各地发表的文献。
Abstract NPM1 mutation is the most common molecular abnormality in patients with acute myeloid leukemia (AML), especially normal karyotype AML (NK-AML), and is associated with a favorable prognosis in the absence of concomitant FLT3-ITD. Like other molecular abnormalities such as FLT3-ITD, C/EBPα and c-Kit mutation, NPM1 mutation normally presents as a recurrent molecular abnormality. The NPM1 mutation is generally used as a molecular marker in the prognosis evaluation of a patient with AML. Here, we report a different case. He was first diagnosed with NPM1 mutation-positive acute monocytic leukemia. However, he achieved no remission, but the NPM1 mutation dramatically became negative after induction chemotherapy. Finally, he achieved complete remission after salvage chemotherapy and the NPM1 mutation was still negative. To our knowledge, this is a rare case according to the worldwide published literature.