Korean J Hematol 1998; 33(3):

Published online September 30, 1998

© The Korean Society of Hematology

급성골수성백혈병 환자에서의 p53 유전자 돌연변이

정철원, 이상재, 김원석, 안명주, 정태준, 김인순, 최일영, 김시영, 윤휘중, 조경삼, 김병국, 이영열

중앙대학교 의과대학 내과학교실,
삼성의료원 내과
한양대학교 의과대학 내과학교실
경희대학교 의과대학 내과학교실
서울대학교 의과대학 내과학교실

Mutation of The p53 Gene in Acute Myelogenous Leukemia

Chul Won Jung, Sang Jae Lee, Won Seog Kim, Myoung Joo Ahn, Te, June Chung, In Soon Kim, ll Young Choi, Si Young Kim, Hwi Joong Yoon, Kyung Sam Cho, Byoung Kook Kim, Young Yiul Lee

Department of Internal Medicine, Chung, Ang University College of Medicine
Samsung Medical Center
Han Yang University School of Medicine

Kyung Hee Univerity School of Medicine
Seoul National University College of Medicine

Abstract

Background: A p53 gene is one of the member of tumor suppressor genes involved in the control of cell cycle. The alteration of the p53 gene induces uncontrolled cellular
proliferation leading to the development of tumor. Mutations of the p53 gene were found in various human cancers including hematologic malignancies. The incidence of the p53 mutation in acute myelogenous leukemia was reported to be relatively low, however, there has been no report as to the incidence and the characteristics of the p53 mutation in acute myelogenous leukemia in Korea.
Methods: Polymerase chain reaction and single strand conformational polymorphism(PCR-SSCP) was done to screen abnormal band shifts in exons 5, 6, 7, 8 of p53 gene
in myeloid blasts obtained from bone marrow aspirates at the time of diagnosis from patients with de novo acute myelogenous leukemia. Mutation of the p53 gene was
confirmed by direct sequencing with Sanger method in the DNAs with abnormal band shifts. Cytogenetic analysis of the bone marrow was performed by G-banding method.
Results: Only 1(2%) out of 48 patients with acute myelogenous leukemia showed abnormal band shift in exon 5 with PCR-SSCP. Base sequence of exon 5 of this patient
with normal karyotype was found to have silent mutation at codon 143 from GTG(valine) to GTA(valine). He had acute myelogenous leukemia of M6 subtype and the leukemia was refractory to two cycles of standard induction chemotherapy,
succumbed to death at last.
Conclusion: Mutation of the p53 gene was found to be very rare in acute myelogenous leukemia in Korea and it was thought to be involved in leukemogensis only in some patients.

Keywords p53 mutation; Acute myelogenous leukemia; PCR-SSCP; Chromosome;

Article

Korean J Hematol 1998; 33(3): 303-310

Published online September 30, 1998

Copyright © The Korean Society of Hematology.

급성골수성백혈병 환자에서의 p53 유전자 돌연변이

정철원, 이상재, 김원석, 안명주, 정태준, 김인순, 최일영, 김시영, 윤휘중, 조경삼, 김병국, 이영열

중앙대학교 의과대학 내과학교실,
삼성의료원 내과
한양대학교 의과대학 내과학교실
경희대학교 의과대학 내과학교실
서울대학교 의과대학 내과학교실

Mutation of The p53 Gene in Acute Myelogenous Leukemia

Chul Won Jung, Sang Jae Lee, Won Seog Kim, Myoung Joo Ahn, Te, June Chung, In Soon Kim, ll Young Choi, Si Young Kim, Hwi Joong Yoon, Kyung Sam Cho, Byoung Kook Kim, Young Yiul Lee

Department of Internal Medicine, Chung, Ang University College of Medicine
Samsung Medical Center
Han Yang University School of Medicine

Kyung Hee Univerity School of Medicine
Seoul National University College of Medicine

Abstract

Background: A p53 gene is one of the member of tumor suppressor genes involved in the control of cell cycle. The alteration of the p53 gene induces uncontrolled cellular
proliferation leading to the development of tumor. Mutations of the p53 gene were found in various human cancers including hematologic malignancies. The incidence of the p53 mutation in acute myelogenous leukemia was reported to be relatively low, however, there has been no report as to the incidence and the characteristics of the p53 mutation in acute myelogenous leukemia in Korea.
Methods: Polymerase chain reaction and single strand conformational polymorphism(PCR-SSCP) was done to screen abnormal band shifts in exons 5, 6, 7, 8 of p53 gene
in myeloid blasts obtained from bone marrow aspirates at the time of diagnosis from patients with de novo acute myelogenous leukemia. Mutation of the p53 gene was
confirmed by direct sequencing with Sanger method in the DNAs with abnormal band shifts. Cytogenetic analysis of the bone marrow was performed by G-banding method.
Results: Only 1(2%) out of 48 patients with acute myelogenous leukemia showed abnormal band shift in exon 5 with PCR-SSCP. Base sequence of exon 5 of this patient
with normal karyotype was found to have silent mutation at codon 143 from GTG(valine) to GTA(valine). He had acute myelogenous leukemia of M6 subtype and the leukemia was refractory to two cycles of standard induction chemotherapy,
succumbed to death at last.
Conclusion: Mutation of the p53 gene was found to be very rare in acute myelogenous leukemia in Korea and it was thought to be involved in leukemogensis only in some patients.

Keywords: p53 mutation, Acute myelogenous leukemia, PCR-SSCP, Chromosome,

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