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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2013.1
- 수록면
- 34 - 37 (4page)
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This study evaluated the effects of somatic mutations and single nucleotide polymorphisms (SNPs) on disease progression and tried to verify the two-hit theory in cancer pathogenesis. To address this issue, SNP analysis was performed using the UCSC hg19 program in 10 acute myeloid leukemia patients (samples, G1 to G10), and somatic mutations were identified in the same tumor sample using SomaticSniper and VarScan2. SNPs in KRAS were detected in 4 out of 10 different individuals, and those of DNMT3A were detected in 5 of the same patient cohort. In 2 patients, both KRAS and DNMT3A were detected simultaneously. A somatic mutation in IDH2 was detected in these 2 patients. One of the patients had an additional mutation in FLT3, while the other patient had an NPM1 mutation. The patient with an FLT3 mutation relapsed shortly after attaining remission, while the other patient with the NPM1 mutation did not suffer a relapse. Our results indicate that SNPs with additional somatic mutations affect the prognosis of AML.
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참고문헌 (7)
참고문헌 신청
Grossmann V / 2011 / hole-exome sequencing identifies somatic mutations of BCOR in acute myeloid leukemia with normal karyotype / Blood 118:6153~6163
Song JH / 2009 / Defective expression of deoxycytidine kinase in cytarabine-resistant acute myeloid leukemia cells / Int J Oncol 34:1165~1171
Tucker T / 2002 / Pathogenesis of hereditary tumors: beyond the "two-hit" hypothesis / Clin Genet 62:345~357
Liang H / 2012 / Differential expression of RBM5, EGFR and KRAS mRNA and protein in non-small cell lung cancer tissues / J Exp Clin Cancer Res 31:36
Pezzi A / 2012 / DNMT3A mutations in patients with acute myeloid leukemia in South Brazil / Adv Hematol 2012:697691
Song JH / 2009 / Defective expression of deoxycytidine kinase in cytarabine-resistant acute myeloid leukemia cells / Int J Oncol 34:1165~1171
Tucker T / 2002 / Pathogenesis of hereditary tumors: beyond the "two-hit" hypothesis / Clin Genet 62:345~357
Liang H / 2012 / Differential expression of RBM5, EGFR and KRAS mRNA and protein in non-small cell lung cancer tissues / J Exp Clin Cancer Res 31:36
Pezzi A / 2012 / DNMT3A mutations in patients with acute myeloid leukemia in South Brazil / Adv Hematol 2012:697691
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