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Molecular Cytogenetics

NUP98 rearrangements in hematopoietic malignancies: a study of the Groupe Francophone de Cytogénétique Hématologique

Leukemia volume 20, pages 696–706 (2006)Cite this article

Abstract

The NUP98 gene is fused with 19 different partner genes in various human hematopoietic malignancies. In order to gain additional clinico-hematological data and to identify new partners of NUP98, the Groupe Francophone de Cytogénétique Hématologique (GFCH) collected cases of hematological malignancies where a 11p15 rearrangement was detected. Fluorescence in situ hybridization (FISH) analysis showed that 35% of these patients (23/66) carried a rearrangement of the NUP98 locus. Genes of the HOXA cluster and the nuclear-receptor set domain (NSD) genes were frequently fused to NUP98, mainly in de novo myeloid malignancies whereas the DDX10 and TOP1 genes were equally rearranged in de novo and in therapy-related myeloid proliferations. Involvement of ADD3 and C6ORF80 genes were detected, respectively, in myeloid disorders and in T-cell acute lymphoblastic leukemia (T-ALL), whereas the RAP1GDS1 gene was fused to NUP98 in T-ALL. Three new chromosomal breakpoints: 3q22.1, 7p15 (in a localization distinct from the HOXA locus) and Xq28 were detected in rearrangements with the NUP98 gene locus. The present study as well as a review of the 73 cases previously reported in the literature allowed us to delineate some chromosomal, clinical and molecular features of patients carrying a NUP98 gene rearrangements.

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Acknowledgements

We gratefully acknowledge S Nusbaum and F Poulain for excelent technical assistance. This work was supported by the Ligue contre le cancer (labeled team: SPR, IRW, AP, C.S, FNK, OAB, RB).

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Authors and Affiliations

  1. Service de cytogénétique, Centre Hospitalier Universitaire (CHU) Necker-Enfants Malades, Paris, France

    S P Romana, I Radford-Weiss & M Vekemans

  2. INSERM EMI 0210, CHU Necker-Enfants Malades, Paris, France

    S P Romana, I Radford-Weiss, R Ben Abdelali, C Schluth, A Petit, O A Bernard & R Berger

  3. CHU Toulouse, Toulouse, France

    N Dastugue

  4. CHU Nantes, Nantes, France

    P Talmant

  5. Hôpital Haut Lévêque, Bordeaux, France

    C Bilhou-Nabera

  6. CHU Dijon, Dijon, France

    F Mugneret

  7. Institut Paoli Calmettes, Marseille, France

    M Lafage-Pochitaloff & M-J Mozziconacci

  8. Hôpital Jeanne de Flandre, Lille, France

    J Andrieu & J-L Lai

  9. Centre Hospitalier de Versailles, Versailles, France

    C Terre

  10. Institut de Pathologie et de Génétique, Gerpinnes, Belgium

    K Rack

  11. CHU Reims, Reims, France

    P Cornillet-Lefebvre & I Luquet

  12. CHU Hôpital Nord, St Etienne, France

    N Nadal

  13. Groupe Hospitalier Pitié-Salpétrière, Paris, France

    F Nguyen-Khac

  14. CHU St Antoine, Paris, France

    C Perot & J Van den Akker

  15. CHR Chambéry, France

    S Fert-Ferrer

  16. Hôpital Universitaire de Genève, Switzerland

    C Cabrol

  17. Hôpital E.Herriot, Lyon, France

    C Charrin & I Tigaud

  18. Cliniques Universitaires, Saint Luc, UCL GMED, Bruxelles, Belgium

    H Poirel

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on behalf of the Groupe Francophone de Cytogénétique Hématologique (GFCH)

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Correspondence to S P Romana.

Appendix

Appendix

The Appendix lists the name of the institute, with the center and number of cases in parentheses, followed by the names of other participants. CHU Toulouse (Toulouse; n=12): Eliane Duchayne, Cécile Demur, Blandine Roquefeuil, Alain Robert, Françoise Huguet, Christian Recher; CHU Nantes (Nantes; n=9); Hôpital Haut Lévêque (Bordeaux; n=7): Yves Perel, Arnaud Pigneux; CHU Dijon (Dijon; n=6): Patrick Callier, Bernardine Favre-Audry, Marc Maynadie, Denis Caillot; Institut Paoli Calmettes (Marseille; n=4): Danielle Sainty, Christine Arnoulet, Norbert Vey, Diane Coso, Aude Charbonnier; Hopital Jeanne de Flandre (Lille; n=4); CH Versailles (Versailles; n=4): Isabelle Garcia, Sylvie Castaigne; Institut de Pathologie et Genetique (Gerpinnes, Belgium; n=3): P Vannuffel, A Delannoy, M Andre, P Mineur; CHU Reims (Reims; n=3) Chantal Himberlin et Sylvie Daliphard; CHU Hôpital Nord (St Etienne, n=3); Groupe Hospitalier Pitié-Salpétrière (Paris; n=2): J.Ong; CHU St Antoine (Paris; n=2); CH Chambéry (Chambéry; n=2); Hôpital Universitaire de Genève (Genève, Switzerland; n=2): Claudine Helg, CHU St Louis (Paris; n=1), Hôpital E.Herriot (Lyon, n=1); Cliniques Universitaires StLuc (Bruxelles, Belgium: n=1)

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Romana, S., Radford-Weiss, I., Ben Abdelali, R. et al. NUP98 rearrangements in hematopoietic malignancies: a study of the Groupe Francophone de Cytogénétique Hématologique. Leukemia 20, 696–706 (2006). https://doi.org/10.1038/sj.leu.2404130

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