Molecular cytogenetics

• Molecular revolution is further refining the specific abnormalities in the genesis of haematological malignancies.

• Techniques such as FISH (fluorescence in situ hybridisation) and PCR (polymerase chain reaction) can detect tiny amounts of abnormal genes.

• BCR-ABL probes are now used in diagnosis and monitoring of treatment response in CML.

• IgH and T-cell receptor (TCR) genes are useful in determining clonality of suspected B and T cell tumours respectively.

• Specific probes may be used in diagnosis and monitoring of subtypes of AML e.g. PML-RARA in AML M3.

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