NEW YORK (GenomeWeb) – Researchers from China and the US used a combination of whole-exome sequencing and targeted gene sequencing to track down frequent mutations to the ErbB signaling pathway in gallbladder carcinoma tumors — work they highlighted in Nature Genetics.

中美研究学者结合全外显子组测序和基因靶向测序来减少胆囊癌肿瘤中ErbB受体信号通路中的突变频率，这篇研究成果发表在Nature Genetics上。

The team started by doing exome sequencing on matched tumor and normal samples from 32 individuals with gallbladder carcinoma. From the nearly 1,500 somatic single nucleotide changes or small somatic insertions and deletions detected in the samples, the group narrowed in on a panel of genes for subsequent targeted sequencing in tumor samples from 51 more individuals with gallbladder carcinoma.

研究小组首先是针对32个个体的成对胆囊癌肿瘤样本和对照样本进行全外显子组测序。在这些样本中检测到约1,500个体细胞SNPs和InDels突变信息，然后研究人员结合针对另外51个胆囊癌肿瘤样本中进行基因靶向测序以缩小筛查突变信息范围。

In nearly half of the tumors tested, the investigators identified mutations in the TP53 gene. Meanwhile, their pathway-focused analysis uncovered mutations to the ErbB signaling pathway in just over one-third of the gallbladder carcinoma cases. The ErbB signaling alterations were particularly common in individuals with poor outcomes, suggesting they may have prognostic potential.

As such, the study's authors argued that "patients harboring mutations in the ErbB pathway might benefit from targeted therapies presently available or in development.

在所测序的一半肿瘤样本中鉴定获得TP53基因存在突变。同时集中研究在1/3肿瘤样本中ErbB信号通路中存在的突变信息。在预后差的个体样本中ErbB信号通路通常存在明显的突变，这表明这些变异信息有预示预后好坏的潜力。因此，该研究作者提到“胆囊癌患者ErbB代谢通路存在变异的可能能够通过在后期靶向治疗中受益。”

新浪博客：http://blog.sina.com.cn/s/blog_13366249a0102ux51.html。

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摘自GenomeWeb。