Prevalence, clinical profile, and prognosis of NPM mutations in AML with normal karyotype - PubMed (original) (raw)

. 2005 Nov 15;106(10):3618-20.

doi: 10.1182/blood-2005-05-2174. Epub 2005 Jul 26.

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

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Prevalence, clinical profile, and prognosis of NPM mutations in AML with normal karyotype

Nicolas Boissel et al. Blood. 2005.

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Abstract

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-alpha [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.

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