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Cytogenetic Characteristics of Childhood Acute Lymphoblastic Leukemia: A Study of 1541 Chinese Patients Newly Diagnosed between 2001 and 2014

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Abstract

Objective

Cytogenetic abnormalities have been proven to be the most valuable parameter for risk stratification of childhood acute lymphoblastic leukemia (ALL). However, studies on the prevalence of cytogenetic abnormalities and their correlation to clinical features in Chinese pediatric patients are limited, especially large-scale studies.

Methods

We collected the cytogenetics and clinical data of 1541 children newly diagnosed with ALL between 2001 and 2014 in four Chinese hospitals, and retrospectively analyzed their clinical features, prognosis and risk factors associated with pediatric ALL.

Results

All of these patients had karyotyping results, and some of them were tested for fusion genes by fluorescence in situ hybridization or reverse-transcription polymerase chain reaction. Overall, 930 cases (60.4%) had abnormal cytogenetics in this study, mainly including high hyperdiploidy (HHD, n=276, 17.9%), hypodiploidy (n=74, 4.8%), t(12;21)/TEL-AML1 (n=260, 16.9%), t(1;19)/E2A-PBX1 (n=72, 4.7%), t(9;22)/BCR-ABL (n=64, 4.2%), and t(v;11q23)/MLL rearrangements (n=40, 2.6%). The distribution of each cytogenetic abnormality was correlated with gender, age, white blood cell count at diagnosis, and immunophenotype. In addition, multivariate analysis suggested that t(v;11q23)/MLL rearrangements (OR: 2.317, 95%CI: 1.219–3.748, P=0.008) and t(9;22)/BCR-ABL (OR: 2.519, 95%CI: 1.59–3.992, P<0.001) were independent risk factors for a lower event-free survival (EFS) rate in children with ALL, while HHD (OR: 0.638, 95%CI: 0.455–0.894, P=0.009) and t(12;21)/TEL-AML1 (OR: 0.486, 95%CI: 0.333–0.707, P<0.001) were independent factors of a favorable EFS.

Conclusion

The cytogenetic characteristics presented in our study resembled other research groups, emphasizing the important role of cytogenetic and molecular genetic classification in ALL, especially in B-ALL.

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Author notes

  1. These authors contributed equally to this work.

Authors and Affiliations

  1. Department of Pediatric Hematology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China

    Meng-meng Yin & Qun Hu

  2. Department of Hematology/Oncology, Shanghai Children’s Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, 200000, China

    Rui-chi Wu, Shu-hong Shen, Jing-yan Tang & Jing Chen

  3. Children’s Hospital of Soochow University, Suzhou, 215000, China

    Jing Gao & Shao-yan Hu

  4. State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, 300000, China

    Xiao-ming Liu & Xiao-fan Zhu

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Correspondence to Jing Chen or Qun Hu.

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Additional information

This study was supported by grants from the National Natural Science Foundation of China (No. 81670136), VIVA-China Children’s Cancer Foundation (Hong Kong), and Chinese Children’s Cancer Group-ALL subgroup.

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Yin, Mm., Wu, Rc., Gao, J. et al. Cytogenetic Characteristics of Childhood Acute Lymphoblastic Leukemia: A Study of 1541 Chinese Patients Newly Diagnosed between 2001 and 2014. CURR MED SCI 42, 201–209 (2022). https://doi.org/10.1007/s11596-021-2477-0

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  • DOI: https://doi.org/10.1007/s11596-021-2477-0

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