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Identification of truncated RUNX1 and RUNX1-PRDM16 fusion transcripts in a case of t(1;21)(p36;q22)-positive therapy-related AML

Leukemia volume 20, pages 1187–1189 (2006)Cite this article

Particular subtypes of acute myeloid leukemia (AML)s and myelodysplastic syndromes (MDS) are associated with specific recurrent chromosomal anomalies. Among these are translocations involving 21q22, which are commonly observed in both de novo and therapy-related (t-)MDS and AML. The t(8;21)(q22;q22), t(3;21)(q26;q22) and t(16;21)(q24;q22) are most frequently observed, but other variants have been described as well.1, 2 The majority of these translocations result in a fusion of the 5′ region of the RUNX1 (CBFA2, AML1) gene with the 3′ region of either one of its partner genes.1 Here, we report a patient with therapy-related AML and a rare t(1;21)(p36;q22). 3′ RACE experiments followed by sequence-specific RT-PCR resulted in the identification of the PRDM16 gene as a novel fusion partner of the RUNX1 gene in this patient.

Two cases were therapy-related and had treatment histories that included topoisomerase II targeting agents. This observation provides further evidence for the previously observed association between RUNX1 translocations and treatment with topoisomerase II inhibitors.2

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Authors and Affiliations

  1. Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

    M-J P L Stevens-Kroef, E F P M Schoenmakers, E Huys, S Vermeulen & A Geurts van Kessel

  2. Department of Hematology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

    M van Kraaij & B van der Reijden

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  1. M-J P L Stevens-Kroef
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  2. E F P M Schoenmakers
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Correspondence to M-J P L Stevens-Kroef.

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Stevens-Kroef, MJ., Schoenmakers, E., van Kraaij, M. et al. Identification of truncated RUNX1 and RUNX1-PRDM16 fusion transcripts in a case of t(1;21)(p36;q22)-positive therapy-related AML. Leukemia 20, 1187–1189 (2006). https://doi.org/10.1038/sj.leu.2404210

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