Korean J Hematol 1998; 33(3):

Published online September 30, 1998

© The Korean Society of Hematology

급성 전골수구성 백혈병에서 RT-PCR에 의한 PML-RARα 유전자 L형 및 S형의 검출

이은엽, 정윤성, 한진영, 이정녀, 전은숙, 정주섭, 조군제

부산대학교병원 임상병리과
부산대학교병원 내과
부산대학교 암연구소
동아대학교병원 임상병리과
부산백병원 임상병리과

Detection of Long and Short isoforms of PML-RARA mRNA by RT-PCR in Acute Promyelocytic Leukemia

Eun YuP Lee, Yoon Seong Jeong, Jeong Nyeo Lee, Jin Yeong Han, Eun Sook Jun, Joo Sup Jeong, Goon Jae Cho

Department of Clinical Pathology, Internal Medicine, Pusan National University Hospital
Inje Pusan Back Hospital, Dong, A University Hospital
Pusan Cancer Research Center, Pusan, Korea

Abstract

Background: Chromosomal translocation t(15 ; 17), the breatpoints of which are in the PML gene on chromosome 15 and RARA gene on chromosome 17, is specifically found
in acute promyelocytic leukemia(APL). According to the site of breakpoint on PML gene, two major isoforms(Long or Short) of PML-RARA mRNA are produced.
Methods: To detect long(L) and short(S) isoforms, we extracted RNA and amplified PML-RARA mRNA by RT-PCR from leukemic cells of 20 cases of APL. We compared the result of cytogenetic study and the clinical response after chemotherapy or ATRA therapy for remission induction with the isoforms of PML-RARA mRNA.
Results: In 19 cases(94%) among 20 cases with APL, PML-RARA mRNA was positive, and negative in a case who showed only i(17q) without t(15;17). In 12 cases(63.2%), L isoform of PML-RARA mRNA was detected, and S isoform(36.8%) in 7
cases of APL. All the cases with t(15;17) were positive for PML-RARA mRNA. In a case of trisomy 8 without t(15; 17), PML-RARA mRNA of L isoform was detected. There was no significant difference between L and S isoform in laboratory findings and clinical response after chemotherapy or ATRA treatment. Excluding 6 cases with death
before or within 10 days of ATRA treatment or chemotherapy, among 13 patients of positive PML-RARA mRNA, 11 cases(84.6%) reached to complete remission, but a case of negative PML-RARA mRNAwas resistent to ATRA treatment.
Conclusion: This study suggests that detection of PML-RARA mRNA with two major isofroms using RT-PCR is more sensitive to diagnose APL and to detect minimal residual disease than cytogenetic study and that further study with more cases may be substantiated the types of PML-RARA mRNA isoform as a prognostic marker.

Keywords Acute promyelocytic leukemia; RT-PCR; PML-RARA mRNA; Long isoform; Short isoform;

Article

Korean J Hematol 1998; 33(3): 385-397

Published online September 30, 1998

Copyright © The Korean Society of Hematology.

급성 전골수구성 백혈병에서 RT-PCR에 의한 PML-RARα 유전자 L형 및 S형의 검출

이은엽, 정윤성, 한진영, 이정녀, 전은숙, 정주섭, 조군제

부산대학교병원 임상병리과
부산대학교병원 내과
부산대학교 암연구소
동아대학교병원 임상병리과
부산백병원 임상병리과

Detection of Long and Short isoforms of PML-RARA mRNA by RT-PCR in Acute Promyelocytic Leukemia

Eun YuP Lee, Yoon Seong Jeong, Jeong Nyeo Lee, Jin Yeong Han, Eun Sook Jun, Joo Sup Jeong, Goon Jae Cho

Department of Clinical Pathology, Internal Medicine, Pusan National University Hospital
Inje Pusan Back Hospital, Dong, A University Hospital
Pusan Cancer Research Center, Pusan, Korea

Abstract

Background: Chromosomal translocation t(15 ; 17), the breatpoints of which are in the PML gene on chromosome 15 and RARA gene on chromosome 17, is specifically found
in acute promyelocytic leukemia(APL). According to the site of breakpoint on PML gene, two major isoforms(Long or Short) of PML-RARA mRNA are produced.
Methods: To detect long(L) and short(S) isoforms, we extracted RNA and amplified PML-RARA mRNA by RT-PCR from leukemic cells of 20 cases of APL. We compared the result of cytogenetic study and the clinical response after chemotherapy or ATRA therapy for remission induction with the isoforms of PML-RARA mRNA.
Results: In 19 cases(94%) among 20 cases with APL, PML-RARA mRNA was positive, and negative in a case who showed only i(17q) without t(15;17). In 12 cases(63.2%), L isoform of PML-RARA mRNA was detected, and S isoform(36.8%) in 7
cases of APL. All the cases with t(15;17) were positive for PML-RARA mRNA. In a case of trisomy 8 without t(15; 17), PML-RARA mRNA of L isoform was detected. There was no significant difference between L and S isoform in laboratory findings and clinical response after chemotherapy or ATRA treatment. Excluding 6 cases with death
before or within 10 days of ATRA treatment or chemotherapy, among 13 patients of positive PML-RARA mRNA, 11 cases(84.6%) reached to complete remission, but a case of negative PML-RARA mRNAwas resistent to ATRA treatment.
Conclusion: This study suggests that detection of PML-RARA mRNA with two major isofroms using RT-PCR is more sensitive to diagnose APL and to detect minimal residual disease than cytogenetic study and that further study with more cases may be substantiated the types of PML-RARA mRNA isoform as a prognostic marker.

Keywords: Acute promyelocytic leukemia, RT-PCR, PML-RARA mRNA, Long isoform, Short isoform,

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