Conclusion

The implication of m-FISH and SKY for clinical diagnostics is that previously uncharacterized complex karyotypes and marker chromosomes are now able to be elucidated.[10] In addition, small translocations, as in constitutional anomalies, hematological tumors, and soft tissue tumors, can be identified more easily.[6] By rigorously analyzing all of the information available per cell, the operator not only minimizes error in classification, but also produces reliable and informative data even from those cases with poor mitotic index. Overall, the information gained from m-FISH and SKY, which is relevant for research as well as diagnostics and staging of disease, outweighs the cost and labor intensiveness of this technology.

The impact for health care of studying the role of structural chromosomal changes in cancer development and progression from precursor lesions to cancer is self-evident. Apart from the suffering it causes to individual patients and their families, cancer is one of the major causes of death, whereas cancer diagnosis and treatment consumes a major part of health-care budgets. Because progression of many types of cancer is driven by changes at the chromosomal level, a better understanding of these mechanisms may have a major impact on our ability to identify high-risk patients at an earlier stage. Moreover, knowledge of critical genomic alterations that drive tumor progression may also provide leads for the development of new anticancer drugs.

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