The current state of molecular cytogenetics in cancer diagnosis

Expert Rev Mol Diagn. 2015 Apr;15(4):517-26. doi: 10.1586/14737159.2015.1013032. Epub 2015 Feb 9.


Cytogenetics and molecular cytogenetics are and will continue to be indispensable tools in cancer diagnostics. Leukemia and lymphoma diagnostics are still emphases of routine (molecular) cytogenetics and corresponding studies of solid tumors gain more and more prominence. Here, first a historical perspective of molecular tumor cytogenetics is provided, which is followed by the basic principles of the fluorescence in situ hybridization (FISH) approach. Finally the current state of molecular cytogenetics in cancer diagnostics is discussed. Nowadays routine diagnostics includes basic FISH approaches rather than multicolor-FISH. The latter together with modern high-throughput methods have their impact on research to identify new tumor-associated genomic regions.

Keywords: copy number variation; counseling; cytogenetics; fluorescence in situ hybridization; leukemia; lymphoma; molecular cytogenetics; oncogene; solid tumors; tumor suppressor gene.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Cytogenetics / methods*
  • Humans
  • In Situ Hybridization, Fluorescence / methods
  • Molecular Diagnostic Techniques*
  • Neoplasms / diagnosis*
  • Neoplasms / genetics*
  • Nucleic Acid Probes


  • Nucleic Acid Probes