급성 골수성 백혈병 및 골수 이형성 증후군에서 N - ras 암유전자 점돌연변이에 관한 연구

• Published in: The Korean journal of medicine Vol. 50; no. 1; pp. 94 - 104
• Main Authors: 신동북, Dong Bok Shin, 김영일, Young Il Kim, 김정희, Jeong Hee Kim, 김시영, Si Young Kim, 윤휘중, Hwi Joong Yoon, 조경삼, Kyung Sam Cho
• Format: Journal Article
• Language: Korean
• Published: 대한내과학회 01.01.1996
• Subjects: AML; direct sequencing; MDS; mutation; N - ras Oncogene; PCR - SSCP
• ISSN: 1738-9364

Objectives: To evaluate the incidence of N-ras oncogene mutation and its chinical significance as a prognostic factor in Korean patients with acute myelogenous leukemia(AML) and myelodysplastic syndrome (MDS). Methods: The point mutations of N-ras oncogene were investigated in 31 AML patients and 4 MDS patients. All the genomic DNAs prepared from the bone marrow mononuclear cells of the patients were screened for mutations by SSCP analysis, and the mutation was confirmed by direct sequencing. Results: While a mobility shift were found in 6 of 31 AML patients, no abnormality of mobility was found in all the 4 MDS patients. Five of 6 AML patients with a mobility shift had a point mutation at codon 12/13 and one patient had a point mutation at codon 61. A base subsitution at codon 12 from GGT(Gly) to GAT(Asp) occurred in 4 of 5 patients, and a base substitution from GGT(Gly) to AGT(Ser) was revealed in the remaining one patient. The point mutation at codon 61 was a base substitution of C with A resulting an amino acid replacement from Gln to Lys. The proportion of blast form was significantly lower in the patients with N-ras gene mutation compared to that in the patients without the mutation. Two of 6 patients with the mutations were erythroblastic subtype. The survival of patients with the mutations of N-ras oncogene was not significantly different from that of the patients without mutation. Conclusion: These data suggest that the mutation of N-ras oncogene is found in Korean AML patients as frequent as in the patients of western countries, and it is neither an important pathogenetic factor nor a crucial prognostic factor in AML. The possibility that N-ras oncogene mutation can be a useful clonal marker for AML remains to be explored