Heim Sverre
Medical Faculty, University of Oslo and Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Norway.
J Pathol. 2014 Oct;234(2):138-41. doi: 10.1002/path.4406.
Microscopic studies of chromosomes in cells cultured from leukaemias and solid tumours have helped confirm the central tenet of Boveri's somatic mutation theory of cancer, namely that acquired chromosomal aberrations of susceptible target cells may cause their neoplastic transformation. Cancer cytogenetics - especially when used together with appropriate molecular genetic investigations of tumour parenchyma cells - offers diagnostic and prognostic information, insights into the clonal composition and evolution of neoplasms, and information about how the observed gains, losses and balanced relocations work pathogenetically. In the future, one may expect cancer cytogenetics to focus not only on how the various aberrations contribute to tumourigenesis, but also on why and how they occur, as well as on the biological meaning behind the polyclonality detected in several epithelial neoplasms. Finally, the study of different nuclear compartments during interphase may add to our understanding of how large-scale numerical and structural karyotypic aberrations may disturb normal controls of cell division and death to induce neoplastic transformation.
对白血病和实体瘤培养细胞中的染色体进行显微镜研究,有助于证实博韦里癌症体细胞突变理论的核心原则,即易感靶细胞获得性染色体畸变可能导致其发生肿瘤转化。癌症细胞遗传学——尤其是与肿瘤实质细胞的适当分子遗传学研究结合使用时——可提供诊断和预后信息,深入了解肿瘤的克隆组成和演变,以及有关观察到的染色体增加、缺失和平衡重排如何在发病机制上起作用的信息。未来,可以预期癌症细胞遗传学不仅关注各种畸变如何促进肿瘤发生,还关注它们为何以及如何发生,以及几种上皮性肿瘤中检测到的多克隆性背后的生物学意义。最后,对间期不同核区室的研究可能会加深我们对大规模染色体数目和结构核型畸变如何扰乱细胞分裂和死亡的正常控制以诱导肿瘤转化的理解。