田蕙芬2006-07-262018-07-112006-07-262018-07-112005http://ntur.lib.ntu.edu.tw//handle/246246/23685NPM mutations have been found in a significant proportion of adults with de novo acute myeloid leukemia (AML), especially in those of a normal karyotype. These results provide a basis for studies of the pathogenesis in this specific subgroup of AML. In this study, NPM mutations were analyzed in 173 de novo AML patients including adults and children. We found NPM mutations were present in 19.1% of the overall population and 40.3% of those with a normal karyotype. Adults had a significantly higher incidence of NPM mutations than children (32/126, 25.4% vs. 1/47, 2.1%, p<0.001). NPM mutations were closely associated with normal karyotype (p<0.001) and FLT3/ITD (p=0.002), but negatively associated with CEBPA mutations (p=0.032) and expression of CD34 (p<0.001) and HLA-DR (p=0.003). Serial analyses of NPM mutations showed the mutation disappeared at complete remission, but the same mutation reappeared at relapse, except for one who lost the mutation at the second relapse, when new cytogenetic abnormalities emerged. None acquired novel mutations during the follow-up period. In conclusion, NPM mutations occur in an age-dependent fashion. The findings that NPM mutations are stable during disease evolution and closely associated with disease status make it a potential marker for monitoring minimal residual disease.application/pdf493021 bytesapplication/pdfzh-TW國立臺灣大學醫學院內科NPMAMLCEBPAFLT3/ITDimmunophenotypereporthttp://ntur.lib.ntu.edu.tw/bitstream/246246/23685/1/932314B002039.pdf