Korean J Hematol 1995; 30(3):

Published online September 30, 1995

© The Korean Society of Hematology

급성 전골수구성백혈병에서 RARα/PML융합전사 발현의 RT-PCR을 이용한 연구

어완규, 김영일, 김정희, 김시영, 윤휘중, 조경삼

고신대학교 의학부 내과학교실,
경희대학교 부속 경희의료원 면역연구실,
경희대학교 의과대학 내과학교실

Detection of RARα/PML Fusion Transcript by RT-PCR in Acute Promyelocytic Leukemia

Wan Kyu Eo, Young Il Kim, Jeong Hee Kim, Si Young Kim, Hwi Joong Yoon, Kyung Sam Cho

Department of Internal Medicine, College of Medicine, Kosin University, Pusan, Korea
Department of Internal Medicine, College of Medicine, Kyung Hee University, Immunology Research Laboratory, Kyung Hee Medical Center, Seoul, Korea

Abstract

Background : Acute promyelocytic leukemia(APL) is characterized by t(15 : 17), high
responsiveness to all-trans retinoic acid, and accompanying bleeding episodes. In APL,
PML/RARα fusion transfripts are frequently expressed, but the expression rate and
function of RARα/PML fusion transcripts are not suffciently evaluated.
Methods: Mononuclear cells isolated from bone marrow were lysed, and then RT-PCR
was done with primer sets to detect RARα/PML transcript. The expression rate and
fusion points of RARα/PML fusion transcripts, and the correlation between these
results and clinical data from 14 patients were assessed.
Results :
1) The number ol patients enrolled was 14(6 males and 8 females). The age ranged
from 17 to 61 (median 37.5 years). Eleven of them were treated with combination
chemotherapy, one with all-trans retinoic acid, and the remaining two were not treated.
Complete remission was achieved in 8 out of 12(66.7%) patients.
2) In 6 out of 14(42.9%), specific bands were shown with 1st round PCR, and 4 out
of 8 initially negative cases proved to have that bands with nested PCR. Overall, 10 out
of 14 cases(71.4%) were revealed to have RARα/PML fusion transcripts and the fusion
points were seemed to be [A] in 5, and [B] in another 5 cases. But in all 10 cases, the
results of cytogenetic study were all negative.
3) The median survival was 2 weeks with fusion point of [A], and 49 weeks with
[B], and the difference was significant(P=0.476, Mantel-Cox).
Conclusion: Based on the presence of RARα/PML fusion transcripts with RT-PCR in
cytogenetitally negative cases, RT-PCR of RARα/PML may have the additional value
of diagnosing APLs and detecting minimal residual disease in clinically negative cases.
Finally, lurther study on RARα/PML is required to evaluate its incidence and clinical
significance on leukemogenesis.

Keywords Acute promyelocytic leukemia, RARU/PML, RT-PCR

Article

Korean J Hematol 1995; 30(3): 441-454

Published online September 30, 1995

Copyright © The Korean Society of Hematology.

급성 전골수구성백혈병에서 RARα/PML융합전사 발현의 RT-PCR을 이용한 연구

어완규, 김영일, 김정희, 김시영, 윤휘중, 조경삼

고신대학교 의학부 내과학교실,
경희대학교 부속 경희의료원 면역연구실,
경희대학교 의과대학 내과학교실

Detection of RARα/PML Fusion Transcript by RT-PCR in Acute Promyelocytic Leukemia

Wan Kyu Eo, Young Il Kim, Jeong Hee Kim, Si Young Kim, Hwi Joong Yoon, Kyung Sam Cho

Department of Internal Medicine, College of Medicine, Kosin University, Pusan, Korea
Department of Internal Medicine, College of Medicine, Kyung Hee University, Immunology Research Laboratory, Kyung Hee Medical Center, Seoul, Korea

Abstract

Background : Acute promyelocytic leukemia(APL) is characterized by t(15 : 17), high
responsiveness to all-trans retinoic acid, and accompanying bleeding episodes. In APL,
PML/RARα fusion transfripts are frequently expressed, but the expression rate and
function of RARα/PML fusion transcripts are not suffciently evaluated.
Methods: Mononuclear cells isolated from bone marrow were lysed, and then RT-PCR
was done with primer sets to detect RARα/PML transcript. The expression rate and
fusion points of RARα/PML fusion transcripts, and the correlation between these
results and clinical data from 14 patients were assessed.
Results :
1) The number ol patients enrolled was 14(6 males and 8 females). The age ranged
from 17 to 61 (median 37.5 years). Eleven of them were treated with combination
chemotherapy, one with all-trans retinoic acid, and the remaining two were not treated.
Complete remission was achieved in 8 out of 12(66.7%) patients.
2) In 6 out of 14(42.9%), specific bands were shown with 1st round PCR, and 4 out
of 8 initially negative cases proved to have that bands with nested PCR. Overall, 10 out
of 14 cases(71.4%) were revealed to have RARα/PML fusion transcripts and the fusion
points were seemed to be [A] in 5, and [B] in another 5 cases. But in all 10 cases, the
results of cytogenetic study were all negative.
3) The median survival was 2 weeks with fusion point of [A], and 49 weeks with
[B], and the difference was significant(P=0.476, Mantel-Cox).
Conclusion: Based on the presence of RARα/PML fusion transcripts with RT-PCR in
cytogenetitally negative cases, RT-PCR of RARα/PML may have the additional value
of diagnosing APLs and detecting minimal residual disease in clinically negative cases.
Finally, lurther study on RARα/PML is required to evaluate its incidence and clinical
significance on leukemogenesis.

Keywords: Acute promyelocytic leukemia, RARU/PML, RT-PCR

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