Effects of somatic mutations are associated with SNP in the progression of individual acute myeloid leukemia patient: the two-hit theory explains inherited predisposition to pathogenesis.
Effects of somatic mutations are associated with SNP in the progression of individual acute myeloid leukemia patient: the two-hit theory explains inherited predisposition to pathogenesis.
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DOI：
10.5808/gi.2013.11.1.34
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发表时间：
2013-03
影响因子：
--
通讯作者：
Yoon SS
中科院分区：
文献类型：
--
作者：
Park S;Koh Y;Yoon SS
本研究评估了体细胞突变和单核苷酸多态性（snp）对疾病进展的影响，并试图验证癌症发病机制中的双重打击理论。为了解决这个问题，使用UCSC hg19程序对10例急性髓性白血病患者（样本，G1至G10）进行了SNP分析，并使用SomaticSniper和VarScan2在同一肿瘤样本中鉴定了体细胞突变。在10个不同个体中有4个检测到KRAS snp，在同一患者队列中有5个检测到DNMT3A snp。2例患者同时检测KRAS和DNMT3A。在这2例患者中检测到IDH2的体细胞突变。其中一名患者有FLT3的额外突变，而另一名患者有NPM1突变。FLT3突变的患者在获得缓解后不久复发，而另一名NPM1突变的患者没有复发。我们的研究结果表明，带有额外体细胞突变的snp影响AML的预后。
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.