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.
Keywords: Boveri; cancer; chromosome; cytogenetics; karyotype.
Copyright © 2014 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.