Abstract: 　Objectives　To explore the relationship between 25 kinds of myeloid tumor gene mutations and acquired aplastic anemia (AA). Methods　The clinical data of AA in 293 children and adults were collected. Twenty five kinds of myeloid tumor gene mutations were detected by second-generation sequencing, and the results were analyzed. Results　Among 293 AA patients (155 boys and 138 girls), there were 142 children and adolescents and 151 adults. There were 178 cases of non-severe AA and 115 cases of severe or very severe AA. The myeloid tumor gene mutations were detected in 19 patients (6.48%), and they were ASXL1 (1 case), KRAS (1 case), PIGA (2 cases), TP53 (2 cases), BCOR (2 cases), TET2 (5 cases), SF3B1 (2 cases), DNMT3A (2 cases), SH2B3 (1 case) and MPL (1 cases). In the 19 patients with genetic variations, there were 6 boys (3.87%) and 13 girls (9.42%) and difference was not statistically significant (P>0.05). Four (2.82%) children and adolescents had variation and 15 (9.93%) adults had variation, and the difference was statistically significant (P<0.05). The genetic variation were in 14 cases in non-severe AA patients (7.78%) and in 5 cases in severe or very severe AA patients (4.35%), and difference was not statistically significant (P>0.05). After 6 months of immunosuppressive therapy, the effective rates in mutation group and non-mutation group were 73.68% (14/19) and 63.18% (151/239) respectively, and the difference was not statistically significant (P>0.05). Conclusion 　In AA patients, the mutation rate from 25 myeloid tumor gene mutations was 6.48%. The mutation rate of children was less than that of adults. Whether there was gene mutation or not had no impacts on the effect of combined immunosuppressive therapy.

Key words: aplastic anemia;　 myeloid tumor-related mutation;　second-generation gene sequencing