title: Acute myeloid leukemia with the t(8;21) translocation: clinical consequences and biological implications.
abstract: The t(8;21) abnormality occurs in a minority of acute myeloid leukemia (AML) patients. The translocation results in an in-frame fusion of two genes, resulting in a fusion protein of one N-terminal domain from the AML1 gene and four C-terminal domains from the ETO gene. This protein has multiple effects on the regulation of the proliferation, the differentiation, and the viability of leukemic cells. The translocation can be detected as the only genetic abnormality or as part of more complex abnormalities. If t(8;21) is detected in a patient with bone marrow pathology, the diagnosis AML can be made based on this abnormality alone. t(8;21) is usually associated with a good prognosis. Whether the detection of the fusion gene can be used for evaluation of minimal residual disease and risk of leukemia relapse remains to be clarified. To conclude, detection of t(8;21) is essential for optimal handling of these patients as it has both diagnostic, prognostic, and therapeutic implications.
authors.affiliation: Division of Hematology, Institute of Medicine, University of Bergen, 5021 Bergen, Norway.
authors.forename: Håkon
authors.initials: H
authors.lastname: Reikvam
authors.forename: Kimberley Joanne
authors.initials: KJ
authors.lastname: Hatfield
authors.forename: Astrid Olsnes
authors.initials: AO
authors.lastname: Kittang
authors.forename: Randi
authors.initials: R
authors.lastname: Hovland
authors.forename: Øystein
authors.initials: Ø
authors.lastname: Bruserud
mesh_terms: D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000453:epidemiology* / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D015995:Prevalence; D014178:Translocation, Genetic / Q000235:genetics*