RESUMEN
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.