Korean J Hematol 1998; 33(3):
Published online September 30, 1998
© The Korean Society of Hematology
급성 골수성 백혈병에서 AML1/ETO 융합유전자 발현과 임상양상
이성배, 김영일, 윤휘중, 김시영, 조경삼
경희대학교 의과대학 내과학교실,
경희대학교 의과대학 면역학교실
AML1/ETO Fusion Gene Expression and Clinical Characteristics of Adult Acute Myelogenous Leukemia
Background: The(8;21) translocation is one of the most frequent karyotypic abnormalities detected in acute myelogenous leukemia(AML). Up to 92% of cases with this translocation are classified as FAB subtype M2. The chromosomal breakpoints involved in t(8;21) have recently been identified to involve the AML1 gene on chromosome 21 and the ETO gene on chromosome 8. The purpose of this study is to find the frequency of the AML1/ETO gene rearrangement in AML-M2 patients with analysis of clinical and hematologic features of the patients according to the presence or absence of the rearrangement.
Methods: Sixteen patients with AML-M2 were included. RNA were isolated and RT-PCR were done to identify the presence of AML1/ETO rearrangement using Kasumi cell line as positive control. Clinical characteristics were analysed and stastical analysis was done.
Results: AML1/ETO gene rearrangement was positive in 12 (75%) of 16 adult patients with AML-M2. In five patient with t(8;21), the AML1/ETO gene rearrangement were positive. In 11 samples without t(8;21), 7 were positive in the RT-PCR. More tests need to be done to identify the overall incidence of AML1/ETO rearrangement in AML-M2 considering the relatively small number of patients included in this study(n=16).
Although there was no significant difference in clinical and hematological findings between the two groups, positivity of Auer rods and incidence of splenomegaly were
higher in group with the rearrangement, and two cases with extramedullary tumor formation were noted in the group with the rearrangement with no cases without the rearrangement.
AML-M2 patients with AML1/ETO rearrangement had a tendency of higher remission rate to chemotherapy and longer duration of survival than AML patient.
Conclusion: Molecular method using RT-PCR to detect AML1/ETO gene rearrangement is very sensitive and rapid. It will be used in diagnosis and more studies on the leukemogenesis and minimal residual disease are needed.
Keywords t(8;21); AML1/ETO gene rearrangement; RT-PCR2; Acute myelogenous leukemia;
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Korean J Hematol 1998; 33(3): 311-321
Published online September 30, 1998
Copyright © The Korean Society of Hematology.
급성 골수성 백혈병에서 AML1/ETO 융합유전자 발현과 임상양상
이성배, 김영일, 윤휘중, 김시영, 조경삼
경희대학교 의과대학 내과학교실,
경희대학교 의과대학 면역학교실
AML1/ETO Fusion Gene Expression and Clinical Characteristics of Adult Acute Myelogenous Leukemia
Sung Bae Lee, Young II Kim, Hwi Joong Yoon, Si Young Kim, Kyung Sam Cho
Department of Internal Medicine, Laboratory of Immunology, College of Medicine, Kyung Hee University, Seoul, Korea
Abstract
Background: The(8;21) translocation is one of the most frequent karyotypic abnormalities detected in acute myelogenous leukemia(AML). Up to 92% of cases with this translocation are classified as FAB subtype M2. The chromosomal breakpoints involved in t(8;21) have recently been identified to involve the AML1 gene on chromosome 21 and the ETO gene on chromosome 8. The purpose of this study is to find the frequency of the AML1/ETO gene rearrangement in AML-M2 patients with analysis of clinical and hematologic features of the patients according to the presence or absence of the rearrangement.
Methods: Sixteen patients with AML-M2 were included. RNA were isolated and RT-PCR were done to identify the presence of AML1/ETO rearrangement using Kasumi cell line as positive control. Clinical characteristics were analysed and stastical analysis was done.
Results: AML1/ETO gene rearrangement was positive in 12 (75%) of 16 adult patients with AML-M2. In five patient with t(8;21), the AML1/ETO gene rearrangement were positive. In 11 samples without t(8;21), 7 were positive in the RT-PCR. More tests need to be done to identify the overall incidence of AML1/ETO rearrangement in AML-M2 considering the relatively small number of patients included in this study(n=16).
Although there was no significant difference in clinical and hematological findings between the two groups, positivity of Auer rods and incidence of splenomegaly were
higher in group with the rearrangement, and two cases with extramedullary tumor formation were noted in the group with the rearrangement with no cases without the rearrangement.
AML-M2 patients with AML1/ETO rearrangement had a tendency of higher remission rate to chemotherapy and longer duration of survival than AML patient.
Conclusion: Molecular method using RT-PCR to detect AML1/ETO gene rearrangement is very sensitive and rapid. It will be used in diagnosis and more studies on the leukemogenesis and minimal residual disease are needed.
Keywords: t(8,21), AML1/ETO gene rearrangement, RT-PCR2, Acute myelogenous leukemia,
