Design and validation of DNA probe sets for a comprehensive interphase cytogenetic analysis of acute myeloid leukemia

• Verfasst von: Döhner, Konstanze [VerfasserIn]
• Verfasst von: Scholl, Claudia [VerfasserIn]
• Verfasst von: Sallath, Jörg [VerfasserIn]
• Verfasst von: Fröhling, Stefan [VerfasserIn]
• Verfasst von: Schlenk, Richard Friedrich [VerfasserIn]
• Verfasst von: Bentz, Martin [VerfasserIn]
• Verfasst von: Stilgenbauer, Stephan [VerfasserIn]
• Verfasst von: Lichter, Peter [VerfasserIn]
• Verfasst von: Döhner, Hartmut [VerfasserIn]
• Titel: Design and validation of DNA probe sets for a comprehensive interphase cytogenetic analysis of acute myeloid leukemia
• Verf.angabe: Konstanze Fischer, Claudia Scholl, Jörg Sàlat, Stefan Fröhling, Richard Schlenk, Martin Bentz, Stephan Stilgenbauer, Peter Lichter, Hartmut Döhner
• E-Jahr: 1996
• Jahr: 15 November 1996
• Umfang: 10 S.
• Fussnoten: Elektronische Reproduktion der Druck-Ausgabe 21. Dezember 2020 ; Gesehen am 31.10.2024
• Titel Quelle: Enthalten in: Blood
• Ort Quelle: Washington, DC : American Society of Hematology, 1946
• Jahr Quelle: 1996
• Band/Heft Quelle: 88(1996), 10, Seite 3962-3971
• ISSN Quelle: 1528-0020
• DOI: doi:10.1182/blood.V88.10.3962.bloodjournal88103962
• Datenträger: Online-Ressource
• Sprache: eng
• K10plus-PPN: 1907295070

Abstract

The objective of this study was to design DNA probe sets that enable the detection of chromosome aberrations in acute myeloid leukemia (AMU by interphase cytogenetics using fluorescence in situ hybridization (FISH) and to compare the results of interphase cytogenetics with those of conventional chromosome banding analysis. One hundred five consecutive patients with adult AML entered on a multicenter treatment trial 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), and t(11q23); inversion inv(16); chromosomal deletions (5q-, 7q-, 9q-, 12p-, 13q-, 17p-, and 20q-); and chromosomal aneuploidies. Interphase cytogenetics was particularly sensitive for detecting the AML-specific gene fusions: 3 additional cases of inv(16) and 1 additional case of t(8;21) were identified by FISH that were missed by banding analysis, whereas equal numbers of t(11q23) and t(15;17) were detected. Five additional cases of trisomy 8q, 3 more cases of trisomy 11 q, and 2 more cases of trisomies 21q and 22q were shown by FISH. These aberrations were either masked in complex karyotypes or identified in cases in which conventional banding analysis failed. On the other hand, the DNA probes selected were not informative to detect 1 case of 5q-, 9q-, and 20q-. In 5 cases, clonal aberrations were detected on banding analysis for which no FISH probes were selected. In conclusion, interphase cytogenetics proved to be more sensitive for detecting AML-specific chimeric gene fusions and some partial trisomies. Interphase cytogenetics provides a powerful technique complementary and, with further development of diagnostic DNA probes, even an alternative to chromosome banding studies for the cytogenetic analysis of AML.