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Cytoplasmic mutated nucleophosmin (NPM1) in blast crisis of chronic myeloid leukaemia

Leukemia volume 23, pages 1370–1371 (2009)Cite this article

Acute myeloid leukaemia (AML) carrying mutations of the nucleophosmin (NPM1) gene, which lead to aberrant cytoplasmic dislocation of the mutated protein (NPMc+ AML),1 accounts for about one-third of all adult AML, usually harbouring a normal karyotype,2 and shows distinctive molecular, immunophenotypic and clinical features.3 In the absence of a concomitant FLT3-ITD mutation, this leukaemia is characterized by a relatively favourable outcome.4 For these reasons, AML with mutated NPM1 has been recently included as new provisional entity in the fourth edition of the World Health Organization (WHO) Classification of Tumors of the Hematopoietic and Lymphoid Tissues.5

AML with mutated NPM1 is regarded as the typical de novo leukaemia because it does not usually occur following myelodysplastic syndromes or chronic myeloproliferative disorders.3 We describe for the first time a unique case of Philadelphia-positive chronic myeloid leukaemia (CML) presenting as myeloid blast crisis carrying cytoplasmic mutated NPM1.

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Acknowledgements

This work was supported by Centro Interdipartimentale per la Ricerca sul Cancro ‘G. Prodi’, European LeukemiaNet, COFIN 2002-2003 (Professor SA Pileri), FIRB/RFO (Professor SA Pileri and Professor PL Zinzani), AIRC, Progetto Strategico di Ateneo 2006 (Professor SA Pileri and Dr Piccaluga), Fondazione Cassa di Risparmio in Bologna, and BolognAIL grants.

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Authors and Affiliations

  1. Department of Haematology and Oncology ‘L. and A. Seràgnoli’, Haematopathology and Haematology Sections, S. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy

    P P Piccaluga, E Sabattini, F Bacci, C Agostinelli, S Righi, F Salmi, N Testoni, S Paolini, F Castagnetti, G Martinelli & S A Pileri

  2. Institute of Haematology, University of Perugia, Perugia, Italy

    B Falini

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  1. P P Piccaluga
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  2. E Sabattini
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  11. B Falini
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  12. S A Pileri
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Correspondence to P P Piccaluga.

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Piccaluga, P., Sabattini, E., Bacci, F. et al. Cytoplasmic mutated nucleophosmin (NPM1) in blast crisis of chronic myeloid leukaemia. Leukemia 23, 1370–1371 (2009). https://doi.org/10.1038/leu.2009.95

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