Understanding the role of genetics in childhood acute lymphoblastic leukemia (Review)
- Eleni Kampouraki
- George N. Goulielmos
- Eftichia Stiakaki
Affiliations: Department of Pediatric Hematology‑Oncology and Laboratory of Blood Diseases and Childhood Cancer Biology, Medical School, University of Crete, 71303 Heraklion, Greece, Section of Molecular Pathology and Human Genetics, Department of Internal Medicine, Medical School of Crete, 71303 Heraklion, Greece
- Published online on: June 16, 2020 https://doi.org/10.3892/wasj.2020.54
Copyright: © Kampouraki
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Single nucleotide polymorphisms (SNPs), the most common type of genetic variation, are important for the study of human diseases. Genome‑wide association studies (GWAS) have revealed specific gene polymorphisms, among hundreds of polymorphisms, that are associated with a number of diseases. Leukemia is one of these human pathologies, while acute lymphoblastic leukemia (ALL) is the most common type of cancer affecting children and adolescents. Despite progress being made in survival rates during over the past decades, ALL remains the second leading cause of cancer‑related mortality in this age group. Consequently, early diagnosis and treatment remain a major clinical challenge. Several gene polymorphisms have been investigated concerning susceptibility to ALL, including SNPs of carcinogen metabolism genes, folate metabolism genes, DNA repair genes, regulators of lymphoid cell differentiation, tumor suppressors, transcriptional factors and chemokines. Furthermore, various SNPs of genes participating in the metabolism of anti‑leukemic agents have revealed associations with therapy‑toxicity. This is important, since therapy‑induced toxicity may lead to interruptions or to the discontinuation of therapy, with the risk of relapse. Finally, SNPs of various genes have been related to the prognostic outcomes of patients with ALL. For these reasons, the present review aimed to describe the role of the above‑mentioned SNPs as regards susceptibility, toxicity and the clinical outcome of ALL.