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Tiling-resolution array-CGH reveals the pattern of DNA copy number alterations in acute lymphoblastic leukemia with 21q amplification: the result of telomere dysfunction and breakage/fusion/breakage cycles?

Leukemia volume 21, pages 1327–1330 (2007)Cite this article

Children with acute lymphoblastic leukemia (ALL) and intrachromosomal amplification of 21q have been identified previously as a new cytogenetic subgroup1, 2 with a frequency of 1.5% in a large series of patients.3 The amplification is most often detected as multiple copies of RUNX1 (AML1) signals, which are seen as clusters during interphase fluorescence in situ hybridization (FISH) analysis using ETV6/RUNX1 probes. The common region of amplification (CRA) spanning 6.5–6.6 Mb was recently reported using high-resolution array-CGH of chromosome 21 and the whole genome changes were characterized using BAC array-CGH with a resolution of 1 Mb.4

We have used a tiling resolution 33 K BAC array and interphase FISH to investigate seven children with ALL with intrachromosomal amplification of 21q to characterize in detail the amplified region, as well as any additional genomic imbalances. We have also tested a possible mechanism by which this amplification could occur (see Materials and methods section in Supplementary Information).

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Acknowledgements

We thank The Swedish Cancer Society, The Swedish Children's Cancer Foundation, The Swedish Medical Research Council and The Mary Bevé Foundation for financial support of this study.

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Authors and Affiliations

  1. Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden

    E Kuchinskaya, A Nordgren, J Schoumans, M Nordenskjöld & E Blennow

  2. Department of Woman and Child Health, Karolinska Institutet, Stockholm, Sweden

    M Heyman & S Söderhäll

  3. Department of Oncology and Pathology, Karolinska Institutet, Stockholm, Sweden

    M Corcoran & D Grandér

  4. Department of Oncology, University Hospital, Lund, Sweden

    J Staaf & Å Borg

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  1. E Kuchinskaya
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  2. A Nordgren
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Correspondence to E Kuchinskaya.

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Supplementary Information accompanies the paper on the Leukemia website (http://www.nature.com/leu)

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Kuchinskaya, E., Nordgren, A., Heyman, M. et al. Tiling-resolution array-CGH reveals the pattern of DNA copy number alterations in acute lymphoblastic leukemia with 21q amplification: the result of telomere dysfunction and breakage/fusion/breakage cycles?. Leukemia 21, 1327–1330 (2007). https://doi.org/10.1038/sj.leu.2404628

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