Objective:To report an acute myeloid leukemia(AML)with insertion translocations of ins(21;8)(q22.1;q22q24),and to investigate its clincal and laborator characteristics.Methods:Bone marrow cells were cultured by 24 hours,following which chromosomes were harvested and analyzed by R-banding karyotype.Reverse transcription polymerase chain reaction(RT-PCR)was used to screen for 53 leukemia-realted fusion genes.The illumina high-throughput sequence was employed to detect AML-related gene mutations.Fianlly,the patient's clinical manifestations,laboratory findings,and treatment response were comprehensively analyzed.Results:The karyotype of this patient was 46,XX,ins(21;8)(q22.1;q22q24)[20].RT-PCR detected the presence of the RUNX1/RUNX1T1(AML1/ETO)fusion gene.The AML-associated gene mutation screening identified Class Ⅰ mutation in CALR,Class Ⅱ mutations in EZH2,ASXL2,and RAD21,and Class Ⅲ mutation in CREBBP.Conclusion:The ins(21;8)(q22.1;q22q24)is a rare insertion variant translocation of t(8;21)(q22;q22),requires expanded case studies to clarify its clinical features and prognostic implications in AML patients with this mutation.

Objective:To report an acute myeloid leukemia(AML)with insertion translocations of ins(21;8)(q22.1;q22q24),and to investigate its clincal and laborator characteristics.Methods:Bone marrow cells were cultured by 24 hours,following which chromosomes were harvested and analyzed by R-banding karyotype.Reverse transcription polymerase chain reaction(RT-PCR)was used to screen for 53 leukemia-realted fusion genes.The illumina high-throughput sequence was employed to detect AML-related gene mutations.Fianlly,the patient's clinical manifestations,laboratory findings,and treatment response were comprehensively analyzed.Results:The karyotype of this patient was 46,XX,ins(21;8)(q22.1;q22q24)[20].RT-PCR detected the presence of the RUNX1/RUNX1T1(AML1/ETO)fusion gene.The AML-associated gene mutation screening identified Class Ⅰ mutation in CALR,Class Ⅱ mutations in EZH2,ASXL2,and RAD21,and Class Ⅲ mutation in CREBBP.Conclusion:The ins(21;8)(q22.1;q22q24)is a rare insertion variant translocation of t(8;21)(q22;q22),requires expanded case studies to clarify its clinical features and prognostic implications in AML patients with this mutation.