Abstract：
The promises of the cancer genome sequencing project, combined with various -omics technologies, have raised questions about the importance of cancer cytogenetic analyses. It is suggested that DNA sequencing provides high resolution, speed, and automation, potentially replacing cytogenetic testing. We disagree with this reductionist prediction. On the contrary, various sequencing projects have unexpectedly challenged gene theory and highlighted the importance of the genome or karyotype in organizing gene network interactions. Consequently, profiling the karyotype can be more meaningful than solely profiling gene mutations, especially in cancer where karyotype alterations mediate cellular macroevolution dominance. In this chapter, recent studies that illustrate the ultimate importance of karyotype in cancer genomics and evolution are briefly reviewed. In particular, the long-ignored non-clonal chromosome aberrations or NCCAs are linked to genome or chromosome instability, genome chaos is linked to genome reorganization under cellular crisis, and the two-phased cancer evolution reconciles the relationship between genome alteration-mediated punctuated macroevolution and gene mutation-mediated stepwise microevolution. By further synthesizing, the concept of karyotype coding is discussed in the context of information management. Altogether, we call for a new era of cancer cytogenetics and cytogenomics, where an array of technical frontiers can be explored further, which is crucial for both basic research and clinical implications in the cancer field.
摘要：
癌症基因组测序计划的承诺，结合各种组学技术，对癌症细胞遗传学分析的重要性提出了质疑。建议DNA测序提供高分辨率，速度,自动化,有可能取代细胞遗传学检测。我们不同意这种还原论的预测。相反,各种测序项目意外地挑战了基因理论，并强调了基因组或核型在组织基因网络相互作用中的重要性。因此,分析核型可能比单独分析基因突变更有意义，特别是在核型改变介导细胞宏观进化优势的癌症中。在这一章中,简要回顾了最近的研究，说明核型在癌症基因组学和进化中的最终重要性。特别是,长期被忽视的非克隆染色体畸变或NCCAs与基因组或染色体不稳定性有关，基因组混乱与细胞危机下的基因组重组有关，两阶段癌症进化协调了基因组改变介导的点状宏观进化和基因突变介导的逐步微观进化之间的关系。通过进一步的综合,在信息管理的背景下讨论了核型编码的概念。总之,我们呼吁癌症细胞遗传学和细胞基因组学的新时代，可以进一步探索一系列技术前沿，这对癌症领域的基础研究和临床意义都至关重要。
