Korean J Hematol 2000; 35(1):

Published online March 31, 2000

© The Korean Society of Hematology

RT-PCR을 이용한 bcr-abl 재배열 검사와 만성골수구성백혈병에서 major bcr내 절단위치의 혈액학적 의의

이영경, 박성섭, 나은경, 김지연, 이영준, 조한익

서울대학교 의과대학 임상병리과학교실,
한림대학교 의과대학 임상병리학교실,
녹십자 의료재단

Hematological Significance of RT-PCR Test for bcr-abl Rearrangement and the Breakpoint Distribution within the Major bcr in Chronic Myelogenous Leukemia Patients

Young Kyung Lee, Sung Sup Park, Eun Kyung Ra, Ji Yeon Kim, Young Joon Lee, Han lk Cho

Department of Clinical Pathology, Seoul National University, College of Medicine
Department of Clinical Pathology, Hallym University, College of Medicine
Green Cross Reference Laboratory, Seoul, Korea

Abstract

BACKGROUND: Bcr-abl rearrangement is the molecular hallmark of chronic myelogenous leukemia (CML). The test for bcr-abl rearrangement, especially using RT-PCR, is the standard test for the diagnosis of CML. We analyzed hematological significances of bcr-abl rearrangement by RT-PCR and the breakpoint distribution within the major bcr in CML patients.
METHODS: From 1994 October to 1997 September, we performed the bcr-abl rearrangement using RT-PCR, in 268 untreated patients with various hematologic diseases, and classified the breakpoints within BCR gene as three types (b2a2, b3a2, e1a2) according to PCR product sizes. We compared hematologic parameters between two groups of b2a2 and b3a2 breakpoints in CML.
RESULTS: Among the patients with clinically diagnosed CML, 96.8% (61/63) were bcr-abl positive. IN ALL, 52.8% (19/36) were bcr-abl positive. All patients with hematologic diseases other than CML or ALL were bcr-abl negative. Among 61 CML patients with positive bcr-abl rearrangement, 19 patients(31.1%) showed b2a2 type and 42 patients (68.9%) b3a2 type. Patients with b3a2 breakpoints showed more frequent peripheral basophilia (P < 0.01) than those with b2a2 type. However, other hematologic parameters were not statistically significant.
CONCLUSION: RT-PCR test for bcr-abl rearrangement is a specific and efficient test for the diagnosis of CML. However, the hematological significance of b2a2 and b3a2 type is uncertain in CML.

Keywords bcr-abl rearrangement; RT-PCR; breakpoint; CML; ALL;

Article

Korean J Hematol 2000; 35(1): 27-33

Published online March 31, 2000

Copyright © The Korean Society of Hematology.

RT-PCR을 이용한 bcr-abl 재배열 검사와 만성골수구성백혈병에서 major bcr내 절단위치의 혈액학적 의의

이영경, 박성섭, 나은경, 김지연, 이영준, 조한익

서울대학교 의과대학 임상병리과학교실,
한림대학교 의과대학 임상병리학교실,
녹십자 의료재단

Hematological Significance of RT-PCR Test for bcr-abl Rearrangement and the Breakpoint Distribution within the Major bcr in Chronic Myelogenous Leukemia Patients

Young Kyung Lee, Sung Sup Park, Eun Kyung Ra, Ji Yeon Kim, Young Joon Lee, Han lk Cho

Department of Clinical Pathology, Seoul National University, College of Medicine
Department of Clinical Pathology, Hallym University, College of Medicine
Green Cross Reference Laboratory, Seoul, Korea

Abstract

BACKGROUND: Bcr-abl rearrangement is the molecular hallmark of chronic myelogenous leukemia (CML). The test for bcr-abl rearrangement, especially using RT-PCR, is the standard test for the diagnosis of CML. We analyzed hematological significances of bcr-abl rearrangement by RT-PCR and the breakpoint distribution within the major bcr in CML patients.
METHODS: From 1994 October to 1997 September, we performed the bcr-abl rearrangement using RT-PCR, in 268 untreated patients with various hematologic diseases, and classified the breakpoints within BCR gene as three types (b2a2, b3a2, e1a2) according to PCR product sizes. We compared hematologic parameters between two groups of b2a2 and b3a2 breakpoints in CML.
RESULTS: Among the patients with clinically diagnosed CML, 96.8% (61/63) were bcr-abl positive. IN ALL, 52.8% (19/36) were bcr-abl positive. All patients with hematologic diseases other than CML or ALL were bcr-abl negative. Among 61 CML patients with positive bcr-abl rearrangement, 19 patients(31.1%) showed b2a2 type and 42 patients (68.9%) b3a2 type. Patients with b3a2 breakpoints showed more frequent peripheral basophilia (P < 0.01) than those with b2a2 type. However, other hematologic parameters were not statistically significant.
CONCLUSION: RT-PCR test for bcr-abl rearrangement is a specific and efficient test for the diagnosis of CML. However, the hematological significance of b2a2 and b3a2 type is uncertain in CML.

Keywords: bcr-abl rearrangement, RT-PCR, breakpoint, CML, ALL,

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