Analysis of immunophenotypic and genetic in pediatric acute megakaryoblastic leukemia

JIANG Ke'an; FU Guo; LI Wanqing; SHU Yi; CHEN Yuanyuan; MOU Qin; GUAN Xianmin

doi:10.3969/j.issn.1006-5725.2026.03.015

Abstract：Objective To analyze the immunophenotypic and genetic characteristics of children with acute megakaryoblastic leukemia(AMKL)and provide relevant evidence for clinical diagnosis and treatment.Methods A retrospective analysis was conducted on the clinical data of 45 children with AMKL who were admitted to the hospital from September 2017 to December 2024,including 23 males and 22 females.Among them,7 cases were Down syndrome-associated AMKL(DS-AMKL),and 38 cases were non-DS-AMKL.Flow cytometry was used for immunophenotypic analysis,G-banding for karyotype analysis,and RT-PCR and sequencing for fusion gene detection.Results The most common clinical manifestation of AMKL children at initial diagnosis was skin ecchymosis or petechiae,with a median platelet count of 17(3～222)×109/L.All children expressed at least one of the platelet-associated glycoproteins CD41a,CD42b,or CD61 in bone marrow blasts,with CD41a having the highest expression rate(84.4%).Compared to non-DS-AMKL,DS-AMKL children had significantly higher detection rates of CD7,CD13,and CD36(P<0.05),while CD41a had a significantly higher detection rate in non-DS-AMKL(P<0.05).Karyotype analysis was performed in 41 children,and chromosomal abnormalities were detected in 33 cases(80.5%),including 14 cases(34.1%)with complex karyotypes.Fusion gene testing was performed in 21 non-DS-AMKL children,revealing 6 cases of CBFA2T3::GLIS2,2 cases of NUP98::KDM5A,and 1 case each of NUP98::ING4,RBM15::MKL1,and KMT2A::MLLT3.Children positive for CBFA2T3::GLIS2 exhibited a characteristic immunophenotype,with high expression of CD56 and no expression of HLA-DR or CD36.Conclusions Pediatric AMKL is a highly heterogeneous disease with relatively characteristic immunophenotypes,a high rate of chromo-somal abnormalities,and CBFA2T3::GLIS2 being the most common fusion gene.Immunophenotypic and genetic molecular testing and analysis can improve the diagnosis and identification of AMKL,enabling better prognostic stratification and treatment selection.