January 2001, Volume 15, Issue 1, Pages 57 - 61

Original Manuscript

Comparison of outcome in acute myelogenous leukemia patients with translocation (8;21) found by standard cytogenetic analysis and patients with AML1/ETO fusion transcript found only by PCR testing JE Sarriera1, M Albitar2, Z Estrov1, C Gidel2, R Aboul-Nasr2, T Manshouri2, S Kornblau1, K-S Chang2, H Kantarjian1 & E Estey1 1Department of Hematology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA     2Department of Laboratory Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, USA     Correspondence to: M Albitar, Division of Laboratory Medicine, Box 72, The University of Texas at Houston MD Anderson Cancer Center, 1515 Holcombe Blvd, Houston, Texas 77030, USA; Fax: 713-794-1800

Keywords

acute myelogenous leukemia;   translocation (8;21);   AML1/ETO;   inversion(16);   CBF/MYH11

Abstract

Patients with normal-karyotype acute myelogenous leukemia (NKAML) may have undetected genetic abnormalities that could affect prognosis. Screening for known AML-specific genetic abnormalities using the reverse transcription polymerase chain reaction (RT-PCR) may help in arriving at a more definitive prognosis. To test this hypothesis, 104 patients without translocation (8;21) and inversion(16), as shown by standard cytogenetic (SC) analysis, were screened for these two genetic abnormalities using RT-PCR. Western blot analysis for the AML1/ETO fusion protein and fluorescent in situ hybridization (FISH) analysis for t(8;21) were performed in patients for whom we had samples. The characteristics and outcome after high-dose cytarabine containing treatments in five patients with t(8;21) shown by RT-PCR alone were then compared to 21 patients with t(8;21) detected using SC analysis. Eight of the 104 patients had masked t(8;21) and none had masked inv(16), as shown by RT-PCR. Five of 54 patients with NKAML had a detectable AML1/ETO fusion RNA transcript. Western blot analysis showed the AML1/ETO fusion protein in four of the seven patients for whom we had samples among the eight with masked t(8;21) shown by RT-PCR. All patients with t(8;21) shown by RT-PCR had negative FISH results. Ninety percent (n = 19) of the patients with t(8;21) shown by SC analysis and 40% (n = 2) of the patients with t(8;21) shown by RT-PCR alone achieved a complete remission (Pvalue 0.03). These data suggest that the outcome of NKAML patients with t(8;21) shown by RT-PCR is not equivalent to patients with t(8;21) by SC studies. Leukemia (2001) 15, 57-61.

Received 6 April 2000; Accepted 27 July 2000

^© Macmillan Publishers Ltd 2001