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Mutations of the transcription factor AML1/CBA2 are uncommon in blastic transformation of chronic myeloid leukaemia

Leukemia volume 15, pages 476–477 (2001)Cite this article

The genetic basis for the transition of chronic myeloid leukaemia (CML) from chronic phase to blast crisis is poorly understood. Recently, mutations in the runt domain of CBFA2 (also known as AML1), or loss of one CBFA2 allele, have been described in a subset of patients with acute myeloid leukaemia (AML).1 2 3 The objective of this study was to determine if similar mutations are also associated with disease progression in CML.

DNA was extracted using standard techniques from peripheral blood or bone marrow samples from 55 patients with BCR-ABL-positive CML in blastic phase (CML-BC). All samples had at least 50% blast cells and chronic phase DNA was available for 17 of the 55 cases. Three DNA samples from patients with AML who were known to have CBFA2 runt domain mutations were kindly provided as positive controls by Dr C Preudhomme (Laboratoire d'Hematologie, Hopital Calmette-CHU, Lille, France). Negative control DNAs from two normal individuals were also analysed.

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Acknowledgements

We thank Dr C Preudhomme for kindly providing DNA from the three patients with runt domain mutations. This work was supported by Leuka 2000 and the Leukaemia Research Fund.

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  1. Department of Haematology, Imperial College School of Medicine, Hammersmith Hospital, Ducane Road, London, W12 0NN, UK

    EJ Steer, JM Goldman & NCP Cross

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  1. EJ Steer
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  2. JM Goldman
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  3. NCP Cross
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Steer, E., Goldman, J. & Cross, N. Mutations of the transcription factor AML1/CBA2 are uncommon in blastic transformation of chronic myeloid leukaemia. Leukemia 15, 476–477 (2001). https://doi.org/10.1038/sj.leu.2402062

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