NPM1 EXON 12 MUTATION

NPM1外显子12突变在细胞遗传学正常的急性髓系白血病（AML）患者中经常被发现，并且经常与FLT3-ITD共同发生。FLT3状态也应评估为与FLT3-ITD共存可能影响预后。外显子12突变被认为是在缺乏flt3-itd的情况下预后良好的预测因子。由于其高频率，NPM1突变在许多治疗中进行了回顾性分析，包括ATRA治疗后的可变结果以及对大剂量柔红霉素或丙戊酸的改善反应。此外，多个组的CD33表面表达增加，与NPM1突变相关，提示这些患者可能对抗CD33治疗有反应。NPM1（NPM1C）的细胞质隔离与诱导治疗的良好反应有关。
NPM1 exon 12 mutations are frequently identified in patients with cytogenetically normal acute myeloid leukemia (AML) and often co-occur with FLT3-ITD. FLT3 status should also be evaluated as co-occurence with FLT3-ITD may impact prognosis. Exon 12 mutations have been identified as a predictor of good prognostic outcomes in the absence of FLT3-ITD. Due to their high frequency, NPM1 mutations have been retrospectively analyzed in the context of a number of therapies including variable results following ATRA treatment as well as improved response to high-dose daunorubicin or valproic acid. Additionally, multiple groups have shown increased surface expression of CD33 associated with NPM1 mutation, suggesting these patients may respond to anti-CD33 therapy. Cytoplasmic sequestration of NPM1 (NPM1c) is associated with a good response to induction therapy.