Johns Hopkins Medical Institutions, Department of Pathology, GI/Liver Division, Baltimore, MD 21232, USA.
Gut. 2012 Jul;61(7):1085-94. doi: 10.1136/gut.2010.236026. Epub 2011 Jul 11.
Pancreatic cancer is a disease caused by the accumulation of genetic alterations in specific genes. Elucidation of the human genome sequence, in conjunction with technical advances in the ability to perform whole exome sequencing, have provided new insight into the mutational spectra characteristic of this lethal tumour type. Most recently, exomic sequencing has been used to clarify the clonal evolution of pancreatic cancer as well as provide time estimates of pancreatic carcinogenesis, indicating that a long window of opportunity may exist for early detection of this disease while in the curative stage. Moving forward, these mutational analyses indicate potential targets for personalised diagnostic and therapeutic intervention as well as the optimal timing for intervention based on the natural history of pancreatic carcinogenesis and progression.
胰腺癌是一种由特定基因中遗传改变的积累引起的疾病。人类基因组序列的阐明,结合全外显子测序能力的技术进步,为这种致命肿瘤类型的突变特征提供了新的见解。最近,外显子组测序被用于阐明胰腺癌的克隆进化,并提供胰腺癌发生的时间估计,表明在可治愈阶段,早期发现这种疾病的机会可能很长。向前推进,这些突变分析为个性化诊断和治疗干预以及基于胰腺癌发生和进展的自然史的最佳干预时机提供了潜在的目标。