Shibata Tatsuhiro
Division of Cancer Genomics, National Cancer Center Research Institute, Chuo-ku, Tokyo, Japan.
Pathol Int. 2012 Oct;62(10):647-59. doi: 10.1111/j.1440-1827.2012.02855.x.
Cancer develops from a single cell with stepwise accumulation of genomic alterations. Recent innovative sequencing technologies have made it possible to sequence the full cancer genome. Cancer genome sequencing has been productive and helpful in the discovery of novel cancer genes. It also has revealed previously unknown but intriguing features of the cancer genome such as chromothripsis and kataegis. However, careful comparison of these studies has suggested that analyses of most tumors still seem to be incomplete, and histopathological diagnosis/classification will be essential for refining these data. Based on the improvement of technology and the completion of the cancer gene catalog, genetic diagnosis, such as examination of all potentially druggable mutations, of individual cancers will be performed routinely together with histological diagnosis. Pathologists will play a central role in both interpreting these patho-molecular diagnoses for oncologists, and the process of decision-making necessary for individualized medicine.
癌症由单个细胞发展而来，伴随着基因组改变的逐步积累。最近的创新测序技术使得对整个癌症基因组进行测序成为可能。癌症基因组测序在发现新的癌症基因方面卓有成效且颇具帮助。它还揭示了癌症基因组此前未知但引人入胜的特征，如染色体碎裂和kataegis（暂未找到对应中文准确词汇）。然而，对这些研究的仔细比较表明，大多数肿瘤的分析似乎仍不完整，组织病理学诊断/分类对于完善这些数据至关重要。基于技术的进步和癌症基因目录的完成，对个体癌症进行基因诊断，如检测所有潜在的可靶向治疗突变，将与组织学诊断一起常规进行。病理学家在为肿瘤学家解读这些病理分子诊断以及个性化医疗所需的决策过程中都将发挥核心作用。
