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Best Pract Res Clin Haematol. 2002 Mar;15(1):91-103.

Molecular measurement of minimal residual disease in Philadelphia-positive acute lymphoblastic leukaemia.

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Clinical Research Division, Program in Genetics and Genomics, Fred Hutchinson Cancer Research Center, D4-100; 1100 Fairview Avenue, North Seattle, WA 98109, USA.


The Philadelphia chromosome (Ph) is found in approximately 5-25% of acute lymphoblastic leukaemia (ALL) cases and is the harbinger of a poor outcome. Polymerase chain reaction (PCR) assays can detect leukaemia-specific genetic lesions down to a sensitivity approaching one leukaemia cell in a background of a million normal cells. In Ph(+) ALL, the unique BCR-ABL translocation is thus a specific target for the detection of minimal residual disease (MRD). After chemotherapy or transplantation the detection of residual BCR-ABL transcripts is associated with a high risk of subsequent relapse. With the advent of novel therapeutics that target the structure and function of BCR-ABL, the detection of MRD may allow for targeted therapy that could abort a potential relapse.

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