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Molecular cytogenetics

t(7;12)(q36;p13) and t(7;12)(q32;p13) – translocations involving ETV6 in children 18 months of age or younger with myeloid disorders

Leukemia volume 15, pages 915–920 (2001)Cite this article

Abstract

Our retrospective karyotype review revealed two rare recurrent translocations affecting ETV6 (TEL): t(7;12)(q36;p13) and t(7;12)(q32;p13). Five patients with a t(7;12) were from a group of 125 successfully karyotyped pediatric patients enrolled in consecutive clinical AML trials of the Dutch Childhood Leukemia Study Group over a period of 7 years. During a search of available cytogenetic databases, we found 7q and 12p abnormalities in two additional Dutch patients and in three participants in Pediatric Oncology Group trials. A del(12p) had been initially identified in four of these patients and re-examination of the original karyograms revealed a t(7;12)(q36;p13) in two instances and a probable t(7;12) in the other two. FISH confirmed the presence of a t(7;12)(q36;p13) in the latter. Most (n = 7) also had trisomy 19. The t(7;12)(q36;p13) (n = 9) was more common than the t(7;12)(q32;p13) (n = 1). These subtle translocations were found only in children 18 months of age or younger. A literature search revealed that the t(7;12) with breakpoints at 7q31-q36 and 12p12-p13 had been reported in six children with myeloid disorders and in two with acute lymphoblastic leukemia; all were 12 months of age or younger. Only two of the 17 for whom survival data were available, were alive after at least 22 months of continuous complete remission. Our findings suggest that ETV6rearrangements due to a t(7;12) may play an adverse role in myeloid disorders in children 18 months of age or younger. Therefore, children in this age group with myeloid disorders should be screened for both MLL and ETV6 rearrangements.

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Acknowledgements

We thank the technical staff of the cytogenetic laboratories involved in this study for their expert assistance and Dr JC Jones for her editorial assistance. The ENOS cosmid was kindly supplied by Dr R de Crom, Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands, the ETV6 cosmids were a generous gift from Dr P Marynen, Center for Human Genetics, Leuven, Belgium, and the alpha-satellite probe for the centromeric region of chromosome 7 (p7t1) was kindly provided by Dr P Devilee, Department of Pathology, University of Leiden, Leiden, The Netherlands. We also thank the following board members of the DCLSG for their cooperation in this study: MVA Bruin, K Hählen, WA Kamps, FAE Nabben, A Postma, JA Rammeloo, GAM de Vaan, ET van ‘t Veer-Korthof, AJP Veerman and RS Weening. This work was supported in part by a grant from the Association for International Cancer Research (No. 99–111), by the American Lebanese Syrian Associated Charities (ALSAC), and by grants (Nos CA31566 and CA 25408) from the National Institutes of Health to investigators for POG protocols 8821 and 9421.

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Authors and Affiliations

  1. Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands

    RM Slater & EM Smit

  2. Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands

    RM Slater & Ev Drunen

  3. Department of Clinical Genetics, University of Amsterdam, Amsterdam, The Netherlands

    WG Kroes

  4. Department of Clinical Genetics, University of Nijmegen, Nijmegen, The Netherlands

    D Olde Weghuis

  5. Department of Medical Genetics, University of Groningen, Groningen, The Netherlands

    E van den Berg

  6. Dutch Childhood Leukemia Study Group, The Hague, The Netherlands

    A van der Does-van den Berg, E van Wering & K Hählen

  7. Department of Pediatric Oncology, Sophia Children's Hospital, Rotterdam, The Netherlands

    K Hählen

  8. Department of Medical Genetics, University of Alabama, Birmingham, AL, USA

    AJ Carroll

  9. Department of Pathology, St Jude Children's Research Hospital, Memphis, TN, USA

    SC Raimondi

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Slater, R., Drunen, E., Kroes, W. et al. t(7;12)(q36;p13) and t(7;12)(q32;p13) – translocations involving ETV6 in children 18 months of age or younger with myeloid disorders. Leukemia 15, 915–920 (2001). https://doi.org/10.1038/sj.leu.2402121

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