Summary
Recent advances in the cytogenetics of human cancers have provided us much important information for the understanding of the mechanisms of initiation and progression of tumors. Chromosome abnormalities in human tumors may be classified into two categories: those specific to particular tumors and those relatively common to all tumors. The former involve chromosome rearrangements or deletions at a particular part of a particular chromosome. This type of abnormality seems to be closely associated with the initiation of cancer. The latter involves changes in the particular part of the genome or genome reorganizations. Those genome reorganizations are assumed to be related to the progression or propagation of tumors.
Complementary to the information obtained from the chromosome abnormalities in tumor cells, there are currently pieces of information on the prezygotic chromosome abnormalities that are associated with specific tumors. They are particularly interesting in that such chromosome defects are also related to the subvisible germinal mutations that are dominantly expressed to develop cancers in a specific tissue. Retinoblastoma (RB) is a malignant tumor of the eye in children. It occurs either by somatic mutation in retinoblasts, or by inherited germinal mutations. Some of the germinal mutations have been unequivocally demonstrated to be a deletion or functional inactivation at a particular site (q14) of chromosome 13. There is also some evidence to suggest that the mutant RB are associated with some gene-control elements. These lines of evidence point to the possibility that many tumors originate from incontrolled- or maldifferentiation of the tissue. Chromosome abnormalities in retinoblastoma tumor cells suggest that, in addition to the initiation by mutation toward cancer, further genome reorganizations are necessary for the progression or propagation of tumors.
Work supported in part by the Princess Takamatsu Cancer Research Fund.
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Sasaki, M.S. (1984). Chromosome Abnormalities in Cancer Development. In: Chu, E.H.Y., Generoso, W.M. (eds) Mutation, Cancer, and Malformation. Environmental Science Research, vol 31. Springer, Boston, MA. https://doi.org/10.1007/978-1-4613-2399-0_3
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