Du Yongxing, Zhao Bangbo, Liu Ziwen, Ren Xiaoxia, Zhao Wenjing, Li Zongze, You Lei, Zhao Yupei
Department of General Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing 100730, PR China.
J Cancer. 2017 Feb 11;8(4):513-522. doi: 10.7150/jca.17622. eCollection 2017.
Pancreatic cancer remains one of the most lethal malignancies, and insights into both personalized diagnosis and intervention of this disease are urgently needed. The rapid development of sequencing technologies has enabled the successive completion of a series of genetic and epigenetic sequencing studies of pancreatic cancer. The mutational landscape of pancreatic cancer is generally portrayed in terms of somatic mutations, structural variations, epigenetic alterations and the core signaling pathways. In recent years, four significant molecular subtype classifications of pancreatic cancer have been proposed based on the expression of transcription factors and downstream targets or the distribution of structural rearrangements. Increasing researches focus on the identification of somatic mutations and other genetic aberrations that drive pancreatic cancer has led to a new era of precision medicine based on molecular subtyping. However, few known molecular classifications are used to guide clinical strategies. Specific scientific, regulatory and ethical challenges must be overcome before genomic and transcriptomic discoveries can be translated into the clinic.
胰腺癌仍然是最致命的恶性肿瘤之一，因此迫切需要深入了解这种疾病的个性化诊断和干预方法。测序技术的迅速发展使得一系列胰腺癌的基因和表观遗传测序研究得以相继完成。胰腺癌的突变图谱通常根据体细胞突变、结构变异、表观遗传改变和核心信号通路来描绘。近年来，基于转录因子和下游靶点的表达或结构重排的分布，提出了四种重要的胰腺癌分子亚型分类。越来越多关于驱动胰腺癌的体细胞突变和其他基因畸变的研究，开启了基于分子亚型的精准医学新时代。然而，很少有已知的分子分类用于指导临床策略。在基因组和转录组学发现能够转化为临床应用之前，必须克服特定的科学、监管和伦理挑战。
