What is the role of genetics in the etiology of acute lymphoblastic leukemia (ALL)?

Updated: Feb 20, 2020
  • Author: Karen Seiter, MD; Chief Editor: Emmanuel C Besa, MD  more...
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A genome-wide association study of susceptibility to ALL in adolescents and young adults identified significant susceptibility locus in GATA3: rs3824662 (odds ratio 1.77) and rs3781093 (OR 1.73) [7] . Other studies have shown associations between polymorphisms of arylamine N-acetyltransferases 1 and 2, MMP-8 promoter genotypes, HLA alleles, ARID5B, IKZF1, CEBPE, CDKN2A, PIP4K2A, LHPP and ELK3 and increased risk of ALL [8, 9, 10] .

Increasingly, cases of ALL with abnormalities of chromosome band 11q23 following treatment with topoisomerase II inhibitors for another malignancy have been described. However, most patients who develop secondary acute leukemia after chemotherapy for another cancer develop AML rather than ALL.

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