一例AML-M2患者初发和缓解期转录组测序SNV结果比较分析

Comparison and Analysis of SNV Results Detected by Transcriptome Sequencing Technology on Initial Diagnosis and Remission Stage of A Patient with AML-M_2

本研究旨在进一步阐明急性髓系白血病的发病机制,筛选新的肿瘤特异性突变。利用高通量测序的方法对1例初诊的部分分化型急性髓系白血病(AML-M2)患者发病期及缓解期外周血样本进行转录组测序,通过对初诊时和缓解后表达基因的比较,筛选可能与白血病发生相关的单核苷酸变异(SNV)。结果表明:Reads在基因上分布均匀,覆盖完整,检测到大部分基因的表达。通过对SNV的筛选,共检测到29881个基因突变,包括28113个种系突变和752个体突变,其中编码区获得性突变11个(P<0.05),包括ZRSR1、MLXIP、TLN1、LAP3、HK3。结论:高通量测序作为一种无偏的检测基因突变的新方法,可以发现肿瘤相关新突变。MLXIP可能是AML M2新的分子标志物。

This study was aimed to further clarify the pathogenesis of acute myeloid leukemia （ AML）, and to forecast new somatic mutations related with leukemia. The peripheral blood samples on initial diagnosis and remission stage of a patient with partiai differentiated AML （AML-M2 ） were sequenced by high throughput transcriptome sequencing technology. The single nucleotide variation （SNV） which possibly related with pathogenesis of leukemia was scrcened through comparision of the expressed genes on initial diagnosis and after remission. The results showed that the Reads distributed uniformly in genome and covered completely, detecting most expression genes, by screening the SNV, a total of 29881 mutations were discovered, including 28113 germline mutations and 752 individual mutations. Among them, 11 acquired mutations （P 〈 0.05 ） in coding regions were got, including ZRSR1, MLXIP, TLN1, LAP3, HK3. It is concluded that the high throughput sequencing as an unbiased new method can find new tumor-related mutations. MLXIP may be a new molecular marker of. AML-M：.