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Blood, 15 November 2005, Vol. 106, No. 10, pp. 3618-3620. Prepublished online as a Blood First Edition Paper on July 26, 2005; DOI 10.1182/blood-2005-05-2174. This Article Full Text Full Text (PDF) All Versions of this Article: 2005-05-2174v1 106/10/3618    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 Citing Articles via Google Scholar Google Scholar Articles by Boissel, N. Articles by Preudhomme, C. Search for Related Content PubMed PubMed Citation Articles by Boissel, N. Articles by Preudhomme, C. Related Collections Neoplasia Oncogenes and Tumor Suppressors Brief Reports Clinical Trials and Observations Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  NEOPLASIA Brief report Prevalence, clinical profile, and prognosis of NPM mutations in AML with normal karyotype Nicolas Boissel, Aline Renneville, Valeria Biggio, Nathalie Philippe, Xavier Thomas, Jean-Michel Cayuela, Christine Terre, Isabelle Tigaud, Sylvie Castaigne, Emmanuel Raffoux, Stephane De Botton, Pierre Fenaux, Herve Dombret, Claude Preudhomme, for the Acute Leukemia French Association (ALFA) From the Service d'Hématologie Adulte, Hôpital Saint-Louis, Paris, France; Laboratoire d'Hématologie A, Hôpital Calmettes, Lille, France; Service d'Hématologie Clinique, Hôpital Edouard Herriot, Lyon, France; Laboratoire Central d'Hématologie, Hôpital Saint-Louis, Paris, France; Laboratoire de Cytogénétique, Hôpital de Versailles, France; Laboratoire d'Hématologie et de Cytogénétique, Hôpital Edouard Herriot, Lyon, France; Service d'Onco-Hématologie, Hôpital de Versailles, France; Service des Maladies du Sang, CHU de Lille, France; and Service d'Hématologie Clinique, Hôpital Avicenne, Bobigny, France. Mutation of the nucleophosmin (NPM) gene has been reported as the most frequent mutation in acute myeloid leukemia (AML), especially in the presence of a normal karyotype. In this subgroup of intermediate-risk AML, the identification of other gene mutations (eg, FLT3, CCAAT/enhancer-binding protein- [CEBPA]) has helped to refine the prognosis. This study explored the prevalence and the prognostic impact of NPM mutations in a cohort of 106 patients with normal-karyotype AML. NPM exon 12 mutations were detected by polymerase chain reaction (PCR) and fragment analysis for the insertion/deletion globally resulting in a 4-bp insertion. NPM mutations were detected in 47% of patients and were associated with a high white blood cell count, involvement of the monocytic lineage (M4/M5), and a decreased prevalence of CEBPA mutations. Complete remission rate and long-term outcome did not differ between NPM-mutated and -nonmutated patients. Prospective studies are needed to confirm the definitive place of NPM mutation detection to predict AML response to therapy. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? 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. Preudhomme, A. Renneville, V. Bourdon, N. Philippe, C. Roche-Lestienne, N. Boissel, N. Dhedin, J.-M. Andre, P. Cornillet-Lefebvre, A. Baruchel, et al. High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder Blood, May 28, 2009; 113(22): 5583 - 5587. [Abstract] [Full Text] [PDF] F. Schneider, E. Hoster, M. Unterhalt, S. Schneider, A. Dufour, T. Benthaus, G. Mellert, E. Zellmeier, S. K. 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Prognostic Significance of, and Gene and MicroRNA Expression Signatures Associated With, CEBPA Mutations in Cytogenetically Normal Acute Myeloid Leukemia With High-Risk Molecular Features: A Cancer and Leukemia Group B Study J. Clin. Oncol., November 1, 2008; 26(31): 5078 - 5087. [Abstract] [Full Text] [PDF] F. Lo-Coco, A. Cuneo, F. Pane, D. Cilloni, D. Diverio, M. Mancini, N. Testoni, A. Bardi, B. Izzo, N. Bolli, et al. Prognostic impact of genetic characterization in the GIMEMA LAM99P multicenter study for newly diagnosed acute myeloid leukemia Haematologica, July 1, 2008; 93(7): 1017 - 1024. [Abstract] [Full Text] [PDF] B. Lowenberg Acute Myeloid Leukemia: The Challenge of Capturing Disease Variety Hematology, January 1, 2008; 2008(1): 1 - 11. [Abstract] [Full Text] [PDF] M. Palmisano, T. Grafone, E. Ottaviani, N. Testoni, M. Baccarani, and G. Martinelli NPM1 mutations are more stable than FLT3 mutations during the course of disease in patients with acute myeloid leukemia Haematologica, September 1, 2007; 92(9): 1268 - 1269. [Abstract] [Full Text] [PDF] P. Brown, E. McIntyre, R. Rau, S. Meshinchi, N. Lacayo, G. Dahl, T. A. Alonzo, M. Chang, R. J. Arceci, and D. Small The incidence and clinical significance of nucleophosmin mutations in childhood AML Blood, August 1, 2007; 110(3): 979 - 985. [Abstract] [Full Text] [PDF] J. Li, D. P. Sejas, S. Burma, D. J. Chen, and Q. Pang Nucleophosmin suppresses oncogene-induced apoptosis and senescence and enhances oncogenic cooperation in cells with genomic instability Carcinogenesis, June 1, 2007; 28(6): 1163 - 1170. [Abstract] [Full Text] [PDF] B. Falini, I. Nicoletti, N. Bolli, M. P. Martelli, A. Liso, P. Gorello, F. Mandelli, C. Mecucci, and M. F. Martelli Translocations and mutations involving the nucleophosmin (NPM1) gene in lymphomas and leukemias Haematologica, April 1, 2007; 92(4): 519 - 532. [Abstract] [Full Text] [PDF] B. Falini, I. Nicoletti, M. F. Martelli, and C. Mecucci Acute myeloid leukemia carrying cytoplasmic/mutated nucleophosmin (NPMc+ AML): biologic and clinical features Blood, February 1, 2007; 109(3): 874 - 885. [Abstract] [Full Text] [PDF] K. Mrozek, G. Marcucci, P. Paschka, S. P. Whitman, and C. D. Bloomfield Clinical relevance of mutations and gene-expression changes in adult acute myeloid leukemia with normal cytogenetics: are we ready for a prognostically prioritized molecular classification? Blood, January 15, 2007; 109(2): 431 - 448. [Abstract] [Full Text] [PDF] H. Dohner Implication of the Molecular Characterization of Acute Myeloid Leukemia Hematology, January 1, 2007; 2007(1): 412 - 419. [Abstract] [Full Text] [PDF] L. Pasqualucci, A. Liso, M. P. Martelli, N. Bolli, R. Pacini, A. Tabarrini, M. Carini, B. Bigerna, A. Pucciarini, R. Mannucci, et al. Mutated nucleophosmin detects clonal multilineage involvement in acute myeloid leukemia: impact on WHO classification Blood, December 15, 2006; 108(13): 4146 - 4155. [Abstract] [Full Text] [PDF] B. Falini, M. P. Martelli, N. Bolli, R. Bonasso, E. Ghia, M. T. Pallotta, D. Diverio, I. Nicoletti, R. Pacini, A. Tabarrini, et al. Immunohistochemistry predicts nucleophosmin (NPM) mutations in acute myeloid leukemia Blood, September 15, 2006; 108(6): 1999 - 2005. [Abstract] [Full Text] [PDF] M. Camos, J. Esteve, P. Jares, D. Colomer, M. Rozman, N. Villamor, D. Costa, A. Carrio, J. Nomdedeu, E. Montserrat, et al. Gene Expression Profiling of Acute Myeloid Leukemia with Translocation t(8;16)(p11;p13) and MYST3-CREBBP Rearrangement Reveals a Distinctive Signature with a Specific Pattern of HOX Gene Expression. Cancer Res., July 15, 2006; 66(14): 6947 - 6954. [Abstract] [Full Text] [PDF] C. S. Wilson, G. S. Davidson, S. B. Martin, E. Andries, J. Potter, R. Harvey, K. Ar, Y. Xu, K. J. Kopecky, D. P. Ankerst, et al. Gene expression profiling of adult acute myeloid leukemia identifies novel biologic clusters for risk classification and outcome prediction Blood, July 15, 2006; 108(2): 685 - 696. [Abstract] [Full Text] [PDF] J. Li, D. P. Sejas, R. Rani, T. Koretsky, G. C. Bagby, and Q. Pang Nucleophosmin Regulates Cell Cycle Progression and Stress Response in Hematopoietic Stem/Progenitor Cells J. Biol. Chem., June 16, 2006; 281(24): 16536 - 16545. [Abstract] [Full Text] [PDF] B. Falini, N. Bolli, J. Shan, M. P. Martelli, A. Liso, A. Pucciarini, B. Bigerna, L. Pasqualucci, R. Mannucci, R. Rosati, et al. Both carboxy-terminus NES motif and mutated tryptophan(s) are crucial for aberrant nuclear export of nucleophosmin leukemic mutants in NPMc+ AML Blood, June 1, 2006; 107(11): 4514 - 4523. [Abstract] [Full Text] [PDF] C. Thiede, S. Koch, E. Creutzig, C. Steudel, T. Illmer, M. Schaich, G. Ehninger, and for the Deutsche Studieninitiative Leukamie (DSIL) Prevalence and prognostic impact of NPM1 mutations in 1485 adult patients with acute myeloid leukemia (AML) Blood, May 15, 2006; 107(10): 4011 - 4020. [Abstract] [Full Text] [PDF] G. Roti, R. Rosati, R. Bonasso, P. Gorello, D. Diverio, M. F. Martelli, B. Falini, C. Mecucci, and for the Gruppo Italiano Malattie Ematologiche dell Denaturing High-Performance Liquid Chromatography: A Valid Approach for Identifying NPM1 Mutations in Acute Myeloid Leukemia J. Mol. Diagn., May 1, 2006; 8(2): 254 - 259. [Abstract] [Full Text] [PDF] W.-C. Chou, J.-L. Tang, L.-I. Lin, M. Yao, W. Tsay, C.-Y. Chen, S.-J. Wu, C.-F. Huang, R.-J. Chiou, M.-H. Tseng, et al. Nucleophosmin Mutations in De novo Acute Myeloid Leukemia: The Age-Dependent Incidences and the Stability during Disease Evolution. Cancer Res., March 15, 2006; 66(6): 3310 - 3316. [Abstract] [Full Text] [PDF] K. Mrozek and C. D. 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