Acute myeloid leukemia with insertion translocations of ins(21;8)(q22.1;q22q24):A case report and literatures review
10.3781/j.issn.1000-7431.2025.2404-0218
- VernacularTitle:伴ins(21;8)(q22.1;q22q24)急性髓系白血病:1例报告及文献复习
- Author:
Ruo RAO
1
;
Menglin DUAN
Author Information
1. 海南省人民医院,海南医学院附属海南医院检验科,海南 海口 570311
- Publication Type:Journal Article
- Keywords:
ins(21;
8)(q22.1;
q22q24);
Insertion variant translocation;
Acute myeloid leukemia;
RUNX1/RUNX1T1 fusion gene
- From:
Tumor
2025;45(3):317-324
- CountryChina
- Language:Chinese
-
Abstract:
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.
