JOURNAL OF SHANGHAI JIAOTONG UNIVERSITY (MEDICAL SCIENCE) ›› 2021, Vol. 41 ›› Issue (3): 320-327.doi: 10.3969/j.issn.1674-8115.2021.03.006

• Basic research • Previous Articles     Next Articles

Identification of potential therapeutic target genes in pediatric acute leukemia of ambiguous lineage based on bioinformatics analysis

Ren-yan WU1(), Xiao-lin GUO1, Deng-li HONG1, Lei CHEN2()   

  1. 1.Key Library of Cell Differentiation and Apoptosis of Ministry of Education, Department of Pathophysiology, Shanghai Jiao Tong University College of Basic Medical Sciences, Shanghai 200025, China
    2.Shanghai Institute of Immunology, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China
  • Received:2020-05-12 Online:2021-03-28 Published:2021-04-06
  • Contact: Lei CHEN;

Abstract: Objective

·To explore the pathogenetic pathways, unique gene expression profiles related to survival and hub genes in children with acute leukemia of ambiguous lineage (ALAL) by bioinformatics analysis.


·From TARGET (Therapeutically Applicable Research to Generate Effective Treatment) and GEO (Gene Expression Omnibus), the expression data of patients and healthy individuals were downloaded. The differential analysis of gene expression, as well as its function and survival analysis, were performed by bioinformatics tools, such as limma, clusterProfiler and survival. Finally, the hub genes of ALAL were screened by constructing protein-protein interaction network (PPI).


·Four thousand and fifty-three significant differentially expressed genes were identified in the differential analysis between ALAL group and control group (all P<0.05), of which 1 844 were up-regulated genes and 2 209 were down-regulated genes. GO (Gene Ontology) and KEGG (Kyoto Encyclopedia of Genes and Genomes) enrichment analysis indicated that up-regulated genes were related to cell cycle and splicing, while the down-regulated genes were associated with immunity. By comparing the expression profiles with those of other types of leukemia, a unique expression pattern of survival-related genes in ALAL were found. Finally, PPI showed that CXCL8 (C-X-C motif chemokine ligand 8) and LMNA (lamin A/C) were the hub genes of the survival gene network.


·The pathogenesis of ALAL is related to cell cycle and immunity. The poor prognosis of ALAL may be related to the unique expression profile of survival-related genes. CXCL8 and LMNA play an important role in ALAL, and may act as potential therapeutic targets. These results have implications for the mechanism research and clinical treatment of ALAL.

Key words: bioinformatics, data mining, leukemia, survival analysis

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