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A unique variant of ETV6/AML1 fusion in a child with acute lymphoblastic leukemia

Leukemia volume 17, pages 993–995 (2003)Cite this article

TO THE EDITOR

The translocation, t(12;21)(p13;q22), is the most common chromosomal rearrangement in children with B-cell precursor acute lymphoblastic leukemia (ALL), occurring in approximately 25% of patients.1,2 It is invisible by G-banded chromosomal analysis and was discovered fortuitously by fluorescence in situ hybridization (FISH) using whole-chromosome painting probes in 19943. The translocation fuses the 5′ part of the ETV6 gene on the short arm of chromosome 12 (12p) with most of the AML1 gene on the long arm of chromosome 21 (21q), to produce the chimeric fusion transcript ETV6/AML1 on the derived chromosome 214. Thus, FISH with probes specific for these regions or reverse transcriptase polymerase chain reaction (RT-PCR) with appropriate primers can be used in the detection of t(12;21). From detailed cytogenetic and FISH studies, a small number of variant and complex chromosomal rearrangements have been reported that involve chromosomes 12 and 21 in the production of the ETV6/AML1 fusion gene.5,6 This is the first report of the ETV6/AML1 fusion produced by a visible insertion of most of 12p into chromosome 21.

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Acknowledgements

This work was supported by the Leukaemia Research Fund. The authors are grateful for the kind donation of probes from Dr Peter Marynen, Leuven, Belgium (ETV6 cosmids); Dr Anne Hagemeijer, EU Concerted Action (ICRF c103 CO664) and Dr Roland Berger, Paris (H11086).

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Authors and Affiliations

  1. Cancer Sciences Division, Leukaemia Research Fund Cytogenetics Group, University of Southampton, Southampton, UK

    G R Jalali, M Martineau & C J Harrison

  2. Leukaemia Research Fund Centre, Institute of Cancer Research, Chester Beatty Laboratories, London, UK

    A M Ford & M Greaves

  3. Department of Haematology, Royal Manchester Children's Hospital, Manchester, UK

    R F Stevens

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  1. G R Jalali
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  2. M Martineau
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  3. A M Ford
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  6. C J Harrison
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Jalali, G., Martineau, M., Ford, A. et al. A unique variant of ETV6/AML1 fusion in a child with acute lymphoblastic leukemia. Leukemia 17, 993–995 (2003). https://doi.org/10.1038/sj.leu.2402873

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