General aspects of cytogenetic analysis in hematologic malignancies
- Yanming Zhang, MD
Yanming Zhang, MD
- Director of Cytogenetics Laboratory
- Memorial Sloan Kettering Cancer Center
- Michelle M Le Beau, PhD
Michelle M Le Beau, PhD
- Professor of Medicine
- University of Chicago Pritzker School of Medicine
The malignant cells in many patients with leukemia, lymphoma, or another malignant hematologic disease have acquired clonal chromosomal abnormalities. Some specific cytogenetic abnormalities are closely, and sometimes uniquely, associated with morphologically and clinically distinct subsets of leukemia or lymphoma, as well as with their prognosis.
Because of the ease of obtaining and processing bone marrow or peripheral blood samples, more information is available about the relationship between cytogenetic abnormalities and the pathogenesis and natural history of the leukemias than for other malignancies. However, improvements in cell culture, processing techniques, and the application of molecular techniques have permitted the identification of a number of recurring abnormalities in solid tumors as well.
The detection of clonal cytogenetic abnormalities can be useful:
●To establish the specific diagnosis, such as the Philadelphia chromosome in chronic myeloid leukemia
●To distinguish between benign reactive lymphoid or myeloid hyperplasia and a monoclonal malignant proliferation
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- GENERAL DEFINITIONS
- Standard notation for reciprocal translocations
- Definition of clonality
- EXAMINATION OF TUMOR SPECIMENS
- Obtaining the sample
- Methods of detection
- - Metaphase cytogenetic analysis
- - FISH
- - Polymerase chain reaction
- - Microarray analysis and sequencing
- GENETIC CONSEQUENCES OF CHROMOSOMAL TRANSLOCATION
- Mechanisms of altered gene function
- - Impaired regulation of gene expression
- - Novel fusion proteins
- Clinical implications
- - Quantitative changes
- - Qualitative changes
- - Selection of treatment