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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 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 Citation Map 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 Google Scholar Articles by Haferlach, C. Articles by Falini, B. PubMed PubMed Citation Articles by Haferlach, C. Articles by Falini, B. Related Collections Myeloid Neoplasia Clinical Trials and Observations Related Articles in Blood Online Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  MYELOID NEOPLASIA AML with mutated NPM1 carrying a normal or aberrant karyotype show overlapping biologic, pathologic, immunophenotypic, and prognostic features Claudia Haferlach1, Cristina Mecucci2, Susanne Schnittger1, Alexander Kohlmann1, Marco Mancini3, Antonio Cuneo4, Nicoletta Testoni5, Giovanna Rege-Cambrin6, Antonella Santucci2, Marco Vignetti7, Paola Fazi7, Maria Paola Martelli2, Torsten Haferlach1, and Brunangelo Falini2 1 Munich Leukemia Laboratory GmbH, Munich, Germany; 2 Institute of Hematology, University of Perugia, Perugia, Italy; 3 Department of Cellular Biotechnologies and Hematology, "La Sapienza" University, Rome, Italy; 4 Department of Biomedical Sciences and Advanced Therapies, University of Ferrara, Ferrara, Italy; 5 Institute of Hematology "Ludovico & Ariosto Seragnoli," University of Bologna, Bologna, Italy; 6 Department of Clinical and Biological Sciences, University of Turin, San Luigi Hospital, Orbassano, Turin, Italy; and 7 GIMEMA Data Center, GIMEMA Foundation, Rome, Italy Acute myeloid leukemia (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 of 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 morphologic, immunophenotypic (CD34 negativity), and gene expression profile (down-regulation of CD34 and up-regulation of HOX genes). No difference in survival was observed among NPM1-mutated AML patients independently of whether they carried a NK or an AK, 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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