Abstract
The objective of this study was to design DNA probe sets that enable the detection of chromosome abnormalities in AML by interphase cytogenetics using fluorescence in situ hybridization (FISH), and to compare the results of interphase cytogenetics with those of conventional chromosome banding analysis. 170 consecutive patients with adult AML entered on the German multicenter treatment trial AML HD93 were studied with a comprehensive set of DNA probes recognizing the most relevant AML-associated structural and numerical chromosome aberrations: translocations t(8;21), t(15;17), t(11q23), inversion inv(16); chromosomal deletions [5q−; 7q−; 9q−; 12p−; 13q−; 17p−; 20q−]; and numerical chromosome abnormalities. The incidence of clonal chromosome aberrations was 51% (87/170) both by banding analysis and by FISH. Interphase cytogenetics was more sensitive for detecting AML-specific chimeric gene fusions, especially inv(16) and t(8;21) as well as some partial trisomies. Interphase cytogenetics provides a powerful technique complementary and, with further development of diagnostic DNA probes, even alternative to chromosome banding studies for the cytogenetic analysis of AML, in particular in a reference laboratory for a multicenter treatment trial.
Published Version
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