Huang Y, Zheng J, Hu J D, Wu Y A, Zheng X Y, Liu T B, Chen F L
Provincial Clinical College, Fujian Medical University, Fuzhou, Fujian, China
Fujian Institute of Hematology, Union Hospital, Fujian Medical University, Fuzhou, Fujian, China.
Genet Mol Res. 2014 Feb 19;13(1):945-53. doi: 10.4238/2014.February.19.5.
We performed whole-exome sequencing in samples representing accelerated phase (AP) and blastic crisis (BC) in a subject with chronic myeloid leukemia (CML). A total of 12.74 Gb clean data were generated, achieving a mean depth coverage of 64.45 and 69.53 for AP and BC samples, respectively, of the target region. A total of 148 somatic variants were detected, including 76 insertions and deletions (indels), 64 single-nucleotide variations (SNV), and 8 structural variations (SV). On the basis of annotation and functional prediction analysis, we identified 3 SNVs and 6 SVs that showed a potential association with CML progression. Among the genes that harbor the identified variants, GATA2 has previously been reported to play important roles in the progression from AP to BC in CML. Identification of these genes will allow us to gain a better understanding of the pathological mechanism of CML and represents a critical advance toward new molecular diagnostic tests for the development of potential therapies for CML.
我们对一名慢性髓性白血病（CML）患者处于加速期（AP）和急变期（BC）的样本进行了全外显子组测序。共生成了12.74 Gb的clean数据，AP和BC样本目标区域的平均深度覆盖度分别达到了64.45和69.53。共检测到148个体细胞变异，包括76个插入缺失（indels）、64个单核苷酸变异（SNV）和8个结构变异（SV）。基于注释和功能预测分析，我们鉴定出3个SNV和6个SV，它们显示出与CML进展的潜在关联。在含有已鉴定变异的基因中，GATA2此前已被报道在CML从AP进展到BC的过程中发挥重要作用。鉴定这些基因将使我们能够更好地理解CML的病理机制，并代表着在开发CML潜在治疗方法的新分子诊断测试方面取得的关键进展。
