Haematologica
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Published online 11 February 2008
Haematologica, Vol 93, Issue 3, 439-442 doi:10.3324/haematol.12153
Copyright © 2008 by Ferrata Storti Foundation
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Acute Myeloid Leukemia

NPM1 mutations and cytoplasmic nucleophosmin are mutually exclusive of recurrent genetic abnormalities: a comparative analysis of 2562 patients with acute myeloid leukemia

Brunangelo Falini1,, Cristina Mecucci1, Giuseppe Saglio2, Francesco Lo Coco3, Daniela Diverio4, Patrick Brown5, Fabrizio Pane6, Marco Mancini4, Maria Paola Martelli1, Stefano Pileri7, Torsten Haferlach8, Claudia Haferlach8, Susanne Schnittger8

1 Institute of Hematology, University of Perugia, Perugia, Italy
2 Department of Clinical and Biological Sciences, University of Turin, San Luigi Hospital, Orbassano, Turin, Italy
3 Department of Biopathology and Diagnostic Imaging, Policlinico Tor Vergata, Rome, Italy
4 Department of Cellular Biotechnologies and Hematology, Policlinico "La Sapienza", Rome, Italy
5 Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Baltimore, USA
6 Department of Biochemistry and Medical Biotechnologies, University "Federico II", Neples, Italy
7 Laboratory of Hematopathology, University of Bologna, Policlinico S. Orsola, Bologna, Italy and
8 Munich Leukemia Laboratory GmbH, Munich, Germany

Correspondence: Brunangelo Falini, MD, Institute of Hematology, University of Perugia, Perugia, Italy. E-mail: faliniem{at}unipg.it

Acute myeloid leukemia carrying NPM1 mutations and cytoplasmic nucleophosmin (NPMc+ acute myeloid leukemia) represents one-third of adult AML (50–60% of all acute myeloid leukemia with normal karyotype) and shows distinct biological, pathological and clinical features. We confirm in 2562 patients with acute myeloid leukemia our previous observation that NPM1 mutations and cytoplasmic nucleophosmin are mutually exclusive of recurrent genetic abnormalities. Taken together, these findings make NPMc+ acute myeloid leukemia a good candidate for inclusion in the upcoming World Health Organization classification.

Key words: acute myeloid leukemia, nucleophosmin, NPM, mutations, antibodies, immunohistochemistry.




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