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Blood, 1 October 2009, Vol. 114, No. 14, pp. 3024-3032. Prepublished online as a Blood First Edition Paper on May 8, 2009; DOI 10.1182/blood-2009-01-197871. This Article Full Text (PDF) Supplemental Table and Figures All Versions of this Article: blood-2009-01-197871v1 114/14/3024    most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Haferlach, C. Articles by Falini, B. Search for Related Content PubMed PubMed Citation Articles by Haferlach, C. Articles by Falini, B. Related Collections Related Articles in Blood Online Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted January 9, 2009 Accepted April 20, 2009 AML with mutated NPM1 carrying a normal or aberrant karyotype show overlapping biological, pathological, immunophenotypic, and prognostic features Claudia Haferlach, Cristina Mecucci, Susanne Schnittger, Alexander Kohlmann, Marco Mancini, Antonio Cuneo, Nicoletta Testoni, Giovanna Rege-Cambrin, Antonella Santucci, Marco Vignetti, Paola Fazi, Maria Paola Martelli, Torsten Haferlach, and Brunangelo Falini* Munich Leukemia Laboratory, GmbH, Munich, Germany Institute of Hematology, University of Perugia, Perugia, Italy Department of Cellular Biotechnologies and Hematology, "La Sapienza" University, Rome, Italy Department of Biomedical Sciences and Advanced Therapies, University of Ferrara, Ferrara, Italy Institute of Hematogy "Ludovico & Ariosto Seragnoli", University of Bologna, Bologna, Italy Department of Clinical and Biological Sciences, University of Turin, San Luigi Hospital, Orbassano, Turin, Italy GIMEMA Data Center, GIMEMA Foundation, Rome, Italy * Corresponding author; email: faliniem{at}unipg.it. AML with mutated NPM1 usually carries normal karyotype (NK) but it may harbor chromosomal aberrations whose significance remains unclear. We addressed this question in 631 AML patients with mutated/cytoplasmic NPM1. An abnormal karyotype (AK) was present in 93/631 cases (14.7%), the most frequent abnormalities being +8, +4, -Y, del(9q), +21. Chromosome aberrations in NPM1-mutated AML were similar to, but occurred less frequently than additional chromosome changes found in other AML with recurrent cytogenetic abnormalities according to WHO classification. Four of the 31 NPM1-mutated AML patients karyotyped at different time points had NK at diagnosis but AK at relapse: del(9q) (n=2), t(2;11) (n=1), inv(12) (n=1). NPM1-mutated AML with NK or AK showed overlapping morphological, immunophenotypic (CD34-negativity) and expression profile (downregulation of CD34 and upregulation of HOX genes). No difference in survival was observed among NPM1-mutated AML patients independently of whether they carried a normal or abnormal karyotype, the NPM1-mutated/FLT3-ITD negative cases showing the better prognosis. Findings in our patients point to chromosomal aberrations as secondary events, reinforce the concept that NPM1 mutation is a founder genetic lesion and indicate that NPM1-mutated AML should be clinically handled as one entity, irrespective of the karyotype. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? Related Articles in Blood Online: The role of cytogenetic abnormalities in acute myeloid leukemia with NPM1 mutations and no FLT3 internal tandem duplication Jean Baptiste Micol, Nicolas Boissel, Aline Renneville, Sylvie Castaigne, Claude Gardin, Claude Preudhomme, and Hervé Dombret Blood 2009 114: 4601-4602. [Full Text] [PDF] Response: NPM1-mutated AML is an entity irrespective of whether or not chromosomal aberrations are present Claudia Haferlach, Marco Vignetti, Torsten Haferlach, and Brunangelo Falini Blood 2009 114: 4602-4603. [Full Text] [PDF] This article has been cited by other articles: J. B. Micol, N. Boissel, A. Renneville, S. Castaigne, C. Gardin, C. Preudhomme, and H. Dombret The role of cytogenetic abnormalities in acute myeloid leukemia with NPM1 mutations and no FLT3 internal tandem duplication Blood, November 12, 2009; 114(20): 4601 - 4602. [Full Text] [PDF] C. Haferlach, M. Vignetti, T. Haferlach, and B. Falini Response: NPM1-mutated AML is an entity irrespective of whether or not chromosomal aberrations are present Blood, November 12, 2009; 114(20): 4602 - 4603. [Full Text] [PDF] S. Schnittger, W. Kern, C. Tschulik, T. Weiss, F. Dicker, B. Falini, C. Haferlach, and T. Haferlach Minimal residual disease levels assessed by NPM1 mutation-specific RQ-PCR provide important prognostic information in AML Blood, September 10, 2009; 114(11): 2220 - 2231. [Abstract] [Full Text] [PDF]

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