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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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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DOI: https://doi.org/10.1038/leu.2008.128
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