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Blood, 15 August 2005, Vol. 106, No. 4, pp. 1419-1422. Prepublished online as a Blood First Edition Paper on May 3, 2005; DOI 10.1182/blood-2005-03-0899. This Article Full Text Full Text (PDF) All Versions of this Article: 2005-03-0899v1 106/4/1419    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 Cazzaniga, G. Articles by Falini, B. Search for Related Content PubMed PubMed Citation Articles by Cazzaniga, G. Articles by Falini, B. 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 Nucleophosmin mutations in childhood acute myelogenous leukemia with normal karyotype Giovanni Cazzaniga, Maria Grazia Dell'Oro, Cristina Mecucci, Emanuela Giarin, Riccardo Masetti, Vincenzo Rossi, Franco Locatelli, Massimo F. Martelli, Giuseppe Basso, Andrea Pession, Andrea Biondi, and Brunangelo Falini From the University of Milan-Bicocca, Pediatric Clinic, M. Tettamanti Research Center, San Gerardo Hospital, Monza, Italy; the University of Perugia, Institute of Hematology, Perugia, Italy; the University of Padua, Pediatric Clinic, Onco-Hematology, Padova, Italy; the University of Bologna, Institute of Hematology and Medical Oncology Seragnoli, Bologna, Italy; and the Paediatric Haematology and Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico San Matteo, Pavia, Italy. Nucleophosmin (NPM) is a nucleocytoplasmic shuttling protein involved in leukemia-associated chromosomal translocations, and it regulates the alternate reading frame (ARF)-p53 tumorsuppressor pathway. Recently, it has been demonstrated that mutations of the NPM1 gene alter the protein at its C-terminal, causing its cytoplasmic localization. Cytoplasmic NPM was detected in 35% of adult patients with primary non-French-American-British (FAB) classification M3 acute myeloid leukemia (AML), associated mainly with normal karyotype. We evaluated the prevalence of the NPM1 gene mutation in non-M3 childhood AML patients enrolled in the ongoing Associazione Italiana di Ematologia e Oncologia Pediatrica (AIEOP-AML02) protocol in Italy. NPM1 mutations were found in 7 (6.5%) of 107 successfully analyzed patients. NPM1- mutated patients carried a normal karyotype (7/26, 27.1%) and were older in age. Thus, the NPM1 mutation is a frequent abnormality in AML patients without known genetic marker; the mutation may represent a new target to monitor minimal residual disease in AML and a potential candidate for alternative and targeted treatments. (Blood. 2005;106:1419-1422) CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: C. Boonthimat, W. Thongnoppakhun, and C. U. 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[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] N. Bolli, I. Nicoletti, M. F. De Marco, B. Bigerna, A. Pucciarini, R. Mannucci, M. P. Martelli, A. Liso, C. Mecucci, F. Fabbiano, et al. Born to Be Exported: COOH-Terminal Nuclear Export Signals of Different Strength Ensure Cytoplasmic Accumulation of Nucleophosmin Leukemic Mutants Cancer Res., July 1, 2007; 67(13): 6230 - 6237. [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] S. Meshinchi and R. J. 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