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General aspects of cytogenetic analysis in hematologic malignancies

Yanming Zhang, MD
Michelle M Le Beau, PhD
Section Editor
Richard A Larson, MD
Deputy Editor
Alan G Rosmarin, MD


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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Literature review current through: Nov 2017. | This topic last updated: Dec 01, 2017.
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