Detection of AML1/ETO fusion transcript as a tool for diagnosing t(8;21) positive acute myelogenous leukemia.
The nonrandom chromosomal translocation t(8;21)(q22;q22) can be found frequently in acute myelogenous leukemia with maturation (AML-M2). The breakpoint of this translocation has been cloned and characterized, and fusion transcript AML1/ETO has been identified. Reverse transcription polymerase chain reaction (RT-PCR) can be used to amplify the breakpoint site of AML1/ETO in t(8;21)-positive AML-M2 patients. The chimeric transcript can be detected in all 16 (100%) t(8;21)-positive AML-M2 patients. In all samples, the size of the amplified DNA fragments and pattern of restriction digest were identical, indicating that the t(8;21) translocation breakpoint occurs within a single intron of the AML1 and ETO genes. Interestingly, this fusion transcript was also detected in one of 13 AML-M2 patients without the t(8;21) translocation, indicating that a masked translocation involving chromosomes 8 and 21, exists in AML. Minimal residual disease was detected by semi-nested RT-PCR in all four patients tested, who had been in complete remission for 12, 15, 34, and 52 months, respectively. These results indicate that RT-PCR amplification of the AML1/ETO fusion transcript is a powerful tool for diagnosing and monitoring minimal residual disease in AML-M2 patients.
Maruyama
F
F
Hematopathology Program, University of Texas M.D. Anderson Cancer Center, Houston 77030.
Stass
S A
SA
Estey
E H
EH
Cork
A
A
Hirano
M
M
Ino
T
T
Freireich
E J
EJ
Yang
P
P
Chang
K S
KS
D000293:Adolescent; D000328:Adult; D000368:Aged; D001483:Base Sequence; D002891:Chromosomes, Human, Pair 21 / Q000502:physiology*; D002898:Chromosomes, Human, Pair 8 / Q000502:physiology*; D017931:DNA Primers / Q000235:genetics; D005260:Female; D006801:Humans; D007438:Introns / Q000235:genetics; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction / Q000379:methods; D012194:RNA-Directed DNA Polymerase / Q000378:metabolism; D011993:Recombinant Fusion Proteins / Q000235:genetics; D012680:Sensitivity and Specificity; D014158:Transcription, Genetic / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*
D017931:DNA Primers; D011993:Recombinant Fusion Proteins; D012194:RNA-Directed DNA Polymerase