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Cytogenetics and Molecular Genetics

Acute myeloid leukaemia with 8p11 (MYST3) rearrangement: an integrated cytologic, cytogenetic and molecular study by the groupe francophone de cytogénétique hématologique

Leukemia volume 22, pages 1567–1575 (2008)Cite this article

Abstract

Thirty cases of acute myeloid leukaemia (AML) with MYST histone acetyltransferase 3 (MYST3) rearrangement were collected in a retrospective study from 14 centres in France and Belgium. The mean age at diagnosis was 59.4 years and 67% of the patients were females. Most cases (77%) were secondary to solid cancer (57%), haematological malignancy (35%) or both (8%), and appeared 25 months after the primary disease. Clinically, cutaneous localization and disseminated intravascular coagulation were present in 30 and 40% of the cases, respectively. AMLs were myelomonocytic (7%) or monocytic (93%), with erythrophagocytosis (75%) and cytoplasmic vacuoles (75%). Immunophenotype showed no particularity compared with monocytic leukaemia without MYST3 abnormality. Twenty-eight cases carried t(8;16)(p11;p13) with MYST3-CREBBP fusion, one case carried a variant t(8;22)(p11;q13) and one case carried a t(8;19)(p11;q13). Type I (MYST3 exon 16-CREBBP exon 3) was the most frequent MYST3-CREBBP fusion transcript (65%). MYST3 rearrangement was associated with a poor prognosis, as 50% of patients deceased during the first 10 months. All those particular clinical, cytologic, cytogenetic, molecular and prognostic characteristics of AML with MYST3 rearrangement may have allowed an individualization into the World Health Organization classification.

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Acknowledgements

We thank cytologists and the members of the Groupe Français d'Hématologie Cellulaire: Jean-Philippe VIAL, Estelle GUERIN, Marguerite MICHEAU (Bordeaux), Danielle TREILLE-RITOUET (Lyon Sud), Marie-Paule CALLAT, Gérard BUCHONNET (Rouen), Bernardine FAVRE-AUDRY, Marc MAYNADIE (Dijon), Bruno VERHASSELT, Jan PHILIPPE, Lucien NOENS (Gent), Richard GARAND (Nantes), Christine ARNOULET (Marseille), Franck GENEVIEVE, Jacques GARDAIS (Angers), Jean-François CLAISSE (Amiens), André PETIT, Claire LESPANEL (Tours), Sylvie DALIPHARD (Reims), Christian VASSELON (Saint Etienne), Catherine SETTEGRANA (Pitié-Salpêtrière, Paris).

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Author notes

  1. C Gervais and A Murati: These authors contributed equally to this work.

Authors and Affiliations

  1. Laboratoire d'Hématologie, CHU de Hautepierre, Strasbourg, France

    C Gervais, C Helias, S Struski, A Eischen & M Lessard

  2. Institut Paoli-Calmettes, Centre de Recherche en Cancérologie, Marseille, France

    A Murati, D Sainty, D Birnbaum & M-J Mozziconacci

  3. Laboratoire d'Hématologie, Hôpital Cardiologique- Haut Lévêque, Bordeaux, France

    E Lippert

  4. Laboratoire d'Hématologie, CHU Lyon Sud, Lyon, France

    I Tigaud

  5. Département de Génétique, Centre Henri Becquerel, Rouen, France

    D Penther & C Bastard

  6. Laboratoire de Cytogénétique, CHU du Bocage, Dijon, France

    F Mugneret

  7. Centrum Medische Genetica, Gent, Belgique

    B Poppe & F Speleman

  8. Laboratoire d'Hématologie, CHU Hôtel-Dieu, Nantes, France

    P Talmant

  9. Laboratoire de Cytogénétique, Hôpital Saint-Antoine, Paris, France

    J VanDen Akker

  10. Laboratoire de Génétique, CHU, Angers, France

    L Baranger

  11. Service de Génétique, Hôpital Bretonneau, Tours, France

    C Barin

  12. Service de Génétique, Hôpital Maison Blanche, Reims, France

    I Luquet

  13. Laboratoire d'Hématologie, Hôpital Nord, Saint-Étienne, France

    N Nadal

  14. Laboratoire d'Hématologie, Hôpital Pitié-Salpêtrière, Paris, France

    F Nguyen-Khac

  15. Laboraoire d'Hématologie, Hôpital Saint-Louis, Paris, France

    O Maarek

  16. Service de génétique humaine, CHU Sart Tilman, Liège, Belgique

    C Herens

  17. Laboratoire d'Hématologie, Hôpital Necker, Paris, France

    G Flandrin

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  1. C Gervais
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Corresponding authors

Correspondence to C Gervais or M-J Mozziconacci.

Appendix

Appendix

Participant centres (number of patients of each centre is indicated in parentheses): CHU d'Angers (1); CHU de Bordeaux (4); CHU de Dijon (2); Centre de Génétique de Gent (2); Hôpital de Lieges (1*); CHU de Lyon-Sud (3); Institut Paoli-Calmettes, Marseille (2); CHU de Nantes (2); CHU de Reims (1); CHU de Rouen (3); CHU de Tours (1); Paris, Hôpital Pitié-Salpêtrière (1); Paris, Hôpital Saint-Antoine (2); Paris, Hôpital Saint-Louis (2*); CHU de Saint-Etienne (1); CHU de Strasbourg (5). *Cases not included in the series (absence of cytological review).

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Gervais, C., Murati, A., Helias, C. et al. Acute myeloid leukaemia with 8p11 (MYST3) rearrangement: an integrated cytologic, cytogenetic and molecular study by the groupe francophone de cytogénétique hématologique. Leukemia 22, 1567–1575 (2008). https://doi.org/10.1038/leu.2008.128

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