Objective To explore the role of concomitant MEF2D-BCL9 fusion gene in the prognostic assessment of acute B-lymphoblastic leukemia(B-ALL),in order to improve the accuracy of risk stratification and to provide clinical ex-perience for individualized diagnosis and treatment of leukemia.Methods We retrospectively analyzed the clinical features and diagnosis and treatment of a child with B-ALL with MEF2D-BCL9 fusion gene previously admitted to the Affiliated Hos-pital of Guangdong Medical University,and conducted a review of relevant literature.Results A 7-year-old boy was admitted to the Affiliated Hospital of Guangdong Medical University in December 2020 for treatment.The MEF2D-BCL9 fusion gene was detected by transcriptome sequencing technology(RNA-seq),and bone marrow flow suggested that naive/primitive B-lymphocytes accounted for 79.3％of the total number of nucleated cells,which was consistent with pre-B-lymphoblastic leukemia(Pre-B-ALL).He was treated with chemotherapy by the 2016 protocol of the South China Collaborative Group for the Treatment of Childhood Acute Lymphoblastic Leukemia,but relapsed within two months after remission,and his family did not agree to hematopoietic stem cell transplantation due to economic reasons,and he eventually died of a severe infection.Conclusion Children with MEF2D-BCL9 fusion-positive B-ALL usually exhibit poor prognostic features such as resistance to chemotherapy,shorter time to relapse,and lower disease-free survival after relapse,in addition to often having high-risk fea-tures such as high leukocyte counts,older age of onset,and HDAC9 overexpression,which may benefit from targeted therapy and hematopoietic stem cell transplantation.
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