Abstract
The translocation t(8;21) is one of the most common cytogenetic abnormalities in acute myeloid leukemia (AML). It is closely associated with the French–American–British (FAB) subtype M2 (AML-M2) and is also seen in M1 (AML-M1) [ 1 Rozman M. Navarro J.T. Domingo A. Ayats R. Vallespi T. Gallart M. Florensa L. Morphologic characterization of acute myeloid leukemia with cytogenetic or molecular evidence of t(8;21), t(15;17), inv(16) and 11q23 abnormalities. Haematologica. 2002; 87: 886-887 PubMed Google Scholar , 2 Davey D.D. Patil S.R. Echternacht H. Fatemi C. Dick F.R. 8;21 translocation in acute nonlymphocytic leukemia: occurrence in M1 and M2 FAB subtypes. Am J Clin Pathol. 1989; 92: 172-176 PubMed Google Scholar , 3 Billstrom R. Johansson B. Fioretos T. Garwicz S. Malm C. Zettervall Mitelman F. Poor survival in t(8;21)(q22;q22)-associated acute myeloid leukaemia with leukocytosis. Eur J Haematol. 1997; 59: 47-52 Crossref PubMed Scopus (42) Google Scholar ]. The t(8;21) is often associated with loss of the Y chromosome in males or the inactivated X in females, and also with a deletion of the long arm of chromosome 9 [ 4 Groupe Français de Cytogénétique Hématologique Acute myelogenous leukemia with an 8;21 translocation: a report on 148 cases from the Groupe Français de Cytogénétique Hématologique. Cancer Genet Cytogenet. 1990; 44: 169-179 Abstract Full Text PDF PubMed Scopus (132) Google Scholar , 5 Minamihisamatsu M. Ishihara T. Translocation (8;21) and its variants in acute nonlymphocytic leukemia: the relative importance of chromosomes 8 and 21 to the genesis of the disease. Cancer Genet Cytogenet. 1988; 33: 161-173 Abstract Full Text PDF PubMed Scopus (48) Google Scholar ]. The translocation involves the RUNX1 gene (previously AML1, CBFA2) [ [6] Yuan Y. Zhou L. Miyamoto T. Iwasaki H. Harakawa N. Hetherington C.J. Burel S.A. Lagasse E. Weissman I.L. Akashi K. Zhang D.E. AML1–ETO expression is directly involved in the development of acute myeloid leukemia in the presence of additional mutations. Proc Natl Acad Sci U S A. 2001; 98: 10398-10403 Crossref PubMed Scopus (359) Google Scholar ] on chromosome 21q22 and the RUNX1T1 gene [ [6] Yuan Y. Zhou L. Miyamoto T. Iwasaki H. Harakawa N. Hetherington C.J. Burel S.A. Lagasse E. Weissman I.L. Akashi K. Zhang D.E. AML1–ETO expression is directly involved in the development of acute myeloid leukemia in the presence of additional mutations. Proc Natl Acad Sci U S A. 2001; 98: 10398-10403 Crossref PubMed Scopus (359) Google Scholar ] on chromosome 8q22. The t(8;21) leads to the formation of the RUNX1/RUNX1T1 (AML1/ETO) fusion transcript on the derivative chromosome 8.
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