Laboratory study of a complex translocation t(2;8;21) (p12;q22;q22) in a patient with acute myelogenous leukemia

The t(2;8;21) is a complex translocation of t(8;21), and is very rare. To investigate the laboratory characteristics of a complex translocation t(2;8;21)(p12;q22;q22) in a patient with acute myelogenous leukemia (AML-M2), bone marrow smears were prepared for morphological analysis. Bone marrow samples were collected for FCM, and prepared by short-term (24 h) unstimulated culture for R-binding and conventional cytogenetic assay (CCA). AML1/ETO chimera transcription was detected by reverse transcriptase polymerase chain reaction (RT-PCR), and laboratory test results were studied with multifactorial analysis method. In this case, the chromosomal analysis (R-banding) demonstrated a complex translocation t(2;8;21)(p12;q22;q22). With combined evidence from morphological and immunophenotypic results, the patient was diagnosed as AML-M2. t(2;8;21)(p12;q22;q22) was considered a rare complex translocation of t(8;21). Experience of the present case further emphasises the importance of the laboratory diagnostic methods.