摘要Mutations of fms-like tyrosine kinase 3 (FLT3) and nucleophosmin (NPMI) exon 12 genes are the mostcommon abnormalities in adult acute myeloid leukemia (AML) with normal cytogenetics. To assess the prognosticimpact of the two gene mutations in Chinese AML patients, we used multiplex polymerase chain reaction (PCR) andcapillary electrophoresis to screen 76 AML patients with normal cytogenetics for mutations in FLT3 internal tandemduplication (FLT3//TD) and exon 12 of the NPMI gene. FLT31//TD mutation was detected in 15 (19.7%) of 76 subjects,and NPMI mutation in 20 (26.3%) subjects. Seven (9.2%) cases were positive for both FLT3//TD and NPMI mutations.Significantly more FLT3//TD aberration was detected in subjects with French-American-British (FAB) M1 (42.8%).NPMI mutation was frequently detected in subjects with M5 (47.1%) and infrequently in subjects with M2 (11.1%).FLT3 and NPMI mutations were significantly associated with a higher white blood cell count in peripheral blood and alower CD34 antigen expression, but not age, sex, or platelet count. Statistical analysis revealed that the FLT3//TDpositive group had a lower complete remission (CR) rate (53.3% vs. 83.6%). Survival analysis showed that theFLT3//TD-positive/NPMI mutation-negative group had worse overall survival (OS) and relapse-free survival (RFS).The FLT3//TD-positive/NPMI mutation-positive group showed a trend towards favorable survival compared with theFLT3//TD-positive/NPMI mutation-negative group (P=0.069). Our results indicate that the FLT311TD mutation might bea prognostic factor for an unfavorable outcome in Chinese AML subjects with normal cytogenetics, while NPMI mutation may be a favorable prognostic factor for OS and RFS in the presence of FLT3//TD.