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Junctions of the AML1/MTG8(ETO) fusion are constant in t(8;21) acute
myeloid leukemia detected by reverse transcription polymerase chain
reaction
T Kozu, H Miyoshi, K Shimizu, N Maseki, Y Kaneko, H Asou, N Kamada and M Ohki
Department of Immunology and Virology, Saitama Cancer Center Research
Institute, Japan.
The chromosomal translocation, t(8;21), is found frequently in acute
myeloid leukemia (AML) with maturation (FAB-M2). We have previously mapped
the translocation breakpoints of t(8;21) in a specific intron of the AML1
gene on chromosome 21. In this study, we cloned cDNAs synthesized from a
cell line carrying t(8;21) by reverse transcription polymerase chain
reaction (RT-PCR) using an AML1-specific primer. The analysis of the cDNAs
structure has led to the identification of the fusion of AML1 with a gene
named MTG8 on chromosome 8, which seems to be identical to ETO. Northern
analysis using MTG8 (ETO) probes detected 7.8-kb and 6.2-kb RNAs and
several minor RNAs in the cell line with t(8;21), but failed to detect any
transcripts in a cell line without t(8;21). A set of primers were designed
to detect the AML1/MTG8(ETO) fusion by PCR. The PCR amplified identical
products in all 6 patients and one cell line with t(8;21), suggesting that
the AML1/MTG8(ETO) fusion is a constant feature associated with t(8;21) and
the junctions of the AML1/MTG8(ETO) fusion are restricted in a unique site.
Because the PCR detection of the AML1/MTG8(ETO) fusion at the RNA level is
highly sensitive, it can be used as a sensitive method for diagnosis and
detection of minimal residual disease in t(8;21) leukemia.
Volume 82,
Issue 4,
pp. 1270-1276,
08/15/1993
Copyright © 1993 by The American Society of Hematology
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