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Therapy Related MDS and AML

Amplification or duplication of chromosome band 21q22 with multiple copies of the AML1 gene and mutation of the TP53 gene in therapy-related MDS and AML

Leukemia volume 19, pages 197–200 (2005)Cite this article

Abstract

Amplification or duplication of the AML1 gene at chromosome band 21q22 was detected by FISH using a locus-specific probe in three out of 171 unselected patients with therapy-related myelodysplasia (t-MDS) or t-AML (1.7%). In two patients AML1 signals were located tandemly on derivative chromosomes, in one patient on a dic(9;21) and in the the other patient on a derivative chromosome 18 made up of interchanging layers of material from chromosomes 9, 14, 18, and 21. In the third patient three single supernumerary copies of AML1 were located on derivatives of chromosomes 19 and 21. All three patients were older, had previously received therapy with alkylating agents without topoisomerase II inhibitors, had complex karyotypes including abnormalities of chromosomes 5 or 7, and presented acquired point mutations of the TP53 gene. No point mutations of the AML1 gene were observed. The results support a pivotal role of impaired TP53 function in the development of gene amplification or duplication in t-MDS and t-AML.

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Acknowledgements

We are indebted to Inge-Lise Frost Andersen and to Pia Bech for excellent technical assistance in performing the FISH analyses and the mutation analyses of TP53 and AML1, respectively.

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Authors and Affiliations

  1. Department of Clinical Genetics, Section of Hematology/Oncology, The Juliane Marie Center, Rigshospitalet, Copenhagen, Denmark

    M K Andersen, D H Christiansen & J Pedersen-Bjergaard

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  1. M K Andersen
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  2. D H Christiansen
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  3. J Pedersen-Bjergaard
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Correspondence to M K Andersen.

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The study was supported by grants from the Danish Cancer society

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Andersen, M., Christiansen, D. & Pedersen-Bjergaard, J. Amplification or duplication of chromosome band 21q22 with multiple copies of the AML1 gene and mutation of the TP53 gene in therapy-related MDS and AML. Leukemia 19, 197–200 (2005). https://doi.org/10.1038/sj.leu.2403612

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