急性髓系白血病和骨髓增生异常综合征患者NPM基因突变的研究

Objective To investigate Nucleophosmin (NPM) gene mutations in patients with primary acute myeloid leukemia(AML) and normal cytogenetics and in patients with primary myelodysplastic syndromes(MDS). Methods Genomic DNA corresponding to exon 12 of NPM gene were amplified by polymerase chain reaction(PCR) in 40 patients with primary AML and normal karyotype（28 cases were new diagnosed and 12 patients were in first remission）and 38 patients with MDS. The PCR products were purified and screened by direct sequencing, if mutations were found , the PCR products were cloned into a pUCm-T vector, then transfected into E.coil DH5α,at least 5 recombinant colonies were selected, and plasmid DNA were prepared and sequenced. Results NPM mutations were found in 6 patients （4 new diagnosed AML cases and 2 MDS cases）, 4 were type A , 1 was type B, and 1 with novel sequence variant(we named it as type R) . Conclusion A new type of NPM mutation was found, and NPM mutations in patients with MDS were first demonstrated, and these results will supply new hints for the effects of NPM gene mutations in the pathogenesis of AML and MDS.