BACKGROUND: The t (8; 21) (q22; q22), which produces the fusion gene AML1/ETO, is associated with relatively good prognosis and, in particular, with a good response to cytosine arabinoside. Analysis of t (8; 21) positive leukemic blasts has shown characteristic morphological and immunological features. We performed this study to investigate the incidence of AML1/ETO rearrangement in adult acute myelogenous leukemia (AML), especially in M2 subtype, to make a comparison of clinical, morphological and immunophenotypic characteristics between AML1/ETO rearrangement positive and negative group in patients with AML and to analyze the correlation with other biological parameters. METHODS: From May 1995 to Sept. 2000, fifty-nine patients with AML, including twenty-nine AML-M2, were studied. RNAs were extracted from leukemic cells and reverse transcriptase mediated polymerase chain reaction (RT-PCR) for AML1/ETO fusion transcript was done. Chromosome study, immunophenotypic and clinical characteristics were analyzed and statistical analysis was done. RESULTS: The incidence of AML1/ETO fusion transcripts was 22.0% in AML and 44.8% in AML-M2. The morphologic finding of bone marrow in AML-M2 showed higher incidence of Auer rods, large blast with prominent golgi and abnormal granules in AML1/ETO positive patients. There was no significant difference of immunophenotype. AML patients with AML1/ETO had a tendency of higher complete remission rate (81.8% vs 56.6%, p=0.13). The overall survival (median; 82.2 weeks vs 34.4 weeks, p=0.02) and progression free survival (median; 50.9 weeks vs 20.4 weeks, p=0.02) of AML1/ETO positive group were longer than those of the negative group in AML. AML-M2 patients with AML1/ETO rearrangement had also a tendency of longer overall survival and progression free survival, although there was no significant difference between both groups. CONCLUSION: Our data suggest that AML1/ETO rearrangement is detected frequently in AML, especially M2, and is a favorable prognostic factor. Thus, molecular diagnostic approaches should be used routinely to identify patients with this genetic subtype of AML.
Adolescent ; Adult ; Aged ; Antineoplastic Combined Chemotherapy Protocols/administration & dosage ; Base Sequence ; Cohort Studies ; Confidence Intervals ; Core Binding Factor Alpha 2 Subunit ; Female ; *Gene Expression Regulation, Leukemic ; *Genetic Predisposition to Disease ; Humans ; Leukemia, Myeloid, Acute/drug therapy/*genetics/*mortality ; Male ; Middle Aged ; Molecular Sequence Data ; Oncogene Proteins, Fusion/*genetics ; Prognosis ; Prospective Studies ; Reference Values ; Reverse Transcriptase Polymerase Chain Reaction/methods ; Sensitivity and Specificity ; Statistics, Nonparametric ; Survival Analysis ; Transcription Factors/*genetics ; Translocation, Genetic ; Treatment Outcome