Complex t(2;21;8)(p12;q22;q22): a variant t(8;21) in a patient with acute myeloid leukemia (AML-M2)

Acute myeloid leukemia with maturation (AML-M2 based on the French-American-British classification) is often accompanied by typical chromosomal changes such as t (8;21)(q22;q22). We report a case of a 31-year-old female with a positive RUNX1/CBFA2T1 (alias AML1/ETO) fusion gene and a karyotype with a t(2;21;8)(p12;q22;q22). Although variant translocations involving chromosome region 2p12 have never been reported before, we suppose this translocation may be responsible for the clinical manifestation and prognosis of this case. The role of this complex variant translocation, as well as the possible formation mechanism, prognostic factors, and morphologic changes are discussed.