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A novel real-time RT-PCR assay for quantification of OTT-MAL fusion transcript reliable for diagnosis of t(1;22) and minimal residual disease (MRD) detection

Leukemia volume 17, pages 1193–1196 (2003)Cite this article

TO THE EDITOR

Acute megakaryoblastic leukemia (AMKL), M7 in the FAB nomenclature, is a heterogeneous subtype of acute myeloid leukemia (AML) whose exact frequency ranges from 3 to 14% of AMLs, depending on the different institutions,1 and is higher in children than in adults. It is the most frequent type of AML occurring in young patients with Down's syndrome (DS),2 in which it is associated with acquired GATA1 mutations.3 AMKL may also occur as a de novo leukemia in the absence of DS or as a secondary malignancy, following myelodysplasia or therapy for a prior malignancy.1 Accordingly, a large variety of chromosomal abnormalities can be observed in AMKL. The most specific and recurring chromosomal abnormality in pediatric AMKL is the t(1;22)(p13;q13) translocation, which is present in one-third of de novo AMKL, mainly in infants.4 The t(1;22) translocation is routinely detected by standard cytogenetic analysis but could remain undetected, in part because of the difficulty to obtain accurate bone marrow (BM) aspirates of these patients because of an associated myelofibrosis or the low number of blasts present in the samples.

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Acknowledgements

This work was supported by INSERM and the Ligue Nationale Contre le Cancer (Comité National and Comité de Paris).

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Authors and Affiliations

  1. Service d'Hématologie Biologique, Hôpital A Trousseau, Paris, France

    P Ballerini, M Adam & L Douay

  2. UPRES A1638 Université Paris VI, Paris, France

    A Blaise & J Landman-Parker

  3. EMI 0210, Faculté Necker Enfants-Malades, Paris, France

    P Ballerini, T Mercher, R Berger & O Bernard

  4. Service de Cytogénétique, Hôpital Saint Antoine, Paris, France

    C Perot & J van den Akker

  5. Service d'Onco-Hématologie Pédiatrique, Hôpital A Trousseau, Paris, France

    B Pellegrino, E Gatbois & J Landman-Parker

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  1. P Ballerini
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  2. A Blaise
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Correspondence to P Ballerini.

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Ballerini, P., Blaise, A., Mercher, T. et al. A novel real-time RT-PCR assay for quantification of OTT-MAL fusion transcript reliable for diagnosis of t(1;22) and minimal residual disease (MRD) detection. Leukemia 17, 1193–1196 (2003). https://doi.org/10.1038/sj.leu.2402914

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  • DOI: https://doi.org/10.1038/sj.leu.2402914

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