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Open Access 01-12-2010 | Research

The frequency of NPM1 mutations in childhood acute myeloid leukemia

Authors: Maria Braoudaki, Chrissa Papathanassiou, Katerina Katsibardi, Natalia Tourkadoni, Kalliopi Karamolegou, Fotini Tzortzatou-Stathopoulou

Published in: Journal of Hematology & Oncology | Issue 1/2010

Abstract

Background

Mutations in the nucleophosmin (NPM1) gene have been solely associated with childhood acute myeloid leukemia (AML). We evaluated the frequency of NPM1 mutations in childhood AML, their relation to clinical and cytogenetic features and the presence of common FLT3 and RAS mutations.

Results

NPM1 mutations were found in 8% of cases. They involved the typical type 'A' mutation and one novel mutation characterized by two individual base pair substitutions, which resulted in 2 amino acid changes (W290) and (S293) in the NPM protein. FLT3/ITD mutations were observed in 12% of the cases and in one NPM1- mutated case bearing also t(8;21) (q22;q22). No common RAS mutations were identified.

Conclusions

A relatively consistent NPM1 mutation rate was observed, but with variations in types of mutations. The role of different types of NPM1 mutations, either individually or in the presence of other common gene mutations may be essential for childhood AML prognosis.

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Title: The frequency of NPM1 mutations in childhood acute myeloid leukemia
Authors: Maria Braoudaki
Chrissa Papathanassiou
Katerina Katsibardi
Natalia Tourkadoni
Kalliopi Karamolegou
Fotini Tzortzatou-Stathopoulou
Publication date: 01-12-2010
Publisher: BioMed Central
Published in: Journal of Hematology & Oncology / Issue 1/2010
Electronic ISSN: 1756-8722
DOI: https://doi.org/10.1186/1756-8722-3-41

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