Objective To evaluate the clinical characteristics and prognosis of 71 cases with acute lymphoblastic leu-kemia(ALL)for positive TEL/AML1 fusion gene through a retrospective analysis.Methods From November 2015 to July 2023,71 children with TEL/AML1 fusion gene positive acute leukemia,including 36 males and 35 females,aged between 2 and 15 years old,were diagnosed with MICM in a single center of Shanghai Children's Hospital.All patients were diagnosed not only using morphology,immunophenotyping,and cytogenetics,but also real-time fluorescence probe PCR was used for screening of 56 fusion genes.FISH was simultaneously performed using TEL/AML1 probes.Results The results of PCR and FISH showed that the TEL/AML1 fusion gene was positive in 71 cases,with a coincidence rate of 100％.The median survival time of 71 patients was 54 months,of which 59 cases had sustained remission,6 a-bandoned treatment,2 deceased,and 4 relapsed.The 5-year event-free survival(EFS)rate was 83.2％,and the 5-year cumulative recurrence rate was 5.6％.Among the four relapsed cases,two relapsed and gave up,and the other two re-lapsed children continued to be in remission after Car-T and hematopoietic stem cell transplantation.One patient re-lapsed after 5 years off drug therapy and eventually died despite intensified chemotherapy and transplantation;The oth-er case died from infection during induction phase of remission due to hyperleukaemia.Excluding the 6 abanndoned ca-ses,the remaining 65 cases were divided into remission group(59/65)and non-remission group(6/65).Through multi-variate analysis of the two groups,it was found that age ≥6 years old,risk stratification and D19d MRD≥0.1％were adverse factors affecting prognosis.Conclusion Children with acute leukemia with positive TEL/AML1 fusion gene can achieve a higher remission rate,and conventional chemotherapy can improve their prognosis.The MRD level after induction remission can be used as a basis for subsequent treatment,and Car-T therapy combined with hematopoietic stem cell transplantation is expected to further improve their prognosis after relapse.
维普
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