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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 (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 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 Preudomme, C. Search for Related Content PubMed PubMed Citation Articles by Boissel, N. Articles by Preudomme, C. Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted May 31, 2005 Accepted July 10, 2005 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, and Claude Preudomme* Service d'Hematologie Adulte, Hopital Saint-Louis, Paris, France Laboratoire d'Hematologie A, Hopital Calmettes, Lille, France Service d'Hematologie Clinique, Hopital Edouard Herriot, Lyon, France Laboratoire Central d'Hematologie, Hopital Saint-Louis, Paris, France Laboratoire de Cytogenetique, Hopital de Versailles, Versailles, France Laboratoire d'Hematologie et de Cytogenetique, Hopital Edouard Herriot, Lyon, France Service d'Onco-Hematologie, Hopital de Versailles, Versailles, France Service des Maladies du Sang, CHU de Lille, Lille, France Service d'Hematologie Clinique, Hopital Avicennes, Bibigny, France * Corresponding author; email: cpreudhomme{at}chru-lille.fr. NPM mutation has been reported as the most frequent mutation in AML, especially in the presence of a normal karyotype. In this subgroup of intermediate risk AML, the identification of other gene mutations (e.g. FLT3, CEBPA) have 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 PCR and fragment analysis for the insertion/deletion globally resulting in 4 base-pairs 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 NPM non-mutated patients. Prospective studies are needed to confirm the definitive place of NPM mutation detection to predict AML response to therapy. 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