Abstract
NPM1 mutations represent frequent genetic alterations in patients with acute myeloid leukemia (AML) associated with a favorable prognosis. Different types of NPM1 mutations have been described. The purpose of our study was to evaluate the relevance of different NPM1 mutation types with regard to clinical outcome. Our analyses were based on 349 NPM1-mutated AML patients treated in the AMLCG99 trial. Complete remission rates, overall survival and relapse-free survival were not significantly different between patients with NPM1 type A or rare type mutations. The NPM1 mutation type does not seem to play a role in risk stratification of cytogenetically normal AML.
Highlights
The gene encoding nucleophosmin (NPM1), a nucleo-cytoplasmatic shuttling protein with prominent nucleolar localization is located on 5q35.1 and contains 12 exons
Patients Our analyses were based on a total of 783 patients with newly diagnosed cytogenetically normal acute myeloid leukemia (AML) treated within the randomized multicenter German AML Cooperative Group 99 (AMLCG99) trial comparing a double induction therapy with thioguanine, cytarabine and daunorubicin (TAD) and high dose mitoxantrone (HAM) versus HAM-HAM [6]
Patient characteristics Analyses were performed in 349 NPM1-mutated patients of 667 patients with CN-AML treated within the AMLCG99 trial, after exclusion of 106 patients without information of the NPM1 mutation status
Summary
The gene encoding nucleophosmin (NPM1), a nucleo-cytoplasmatic shuttling protein with prominent nucleolar localization is located on 5q35.1 and contains 12 exons. NPM1 mutations can be found in 35% of patients with cytogenetically normal acute myeloid leukemia (AML). They are associated with a favorable prognosis in the absence of an additional internal tandem duplication in the fms-related tyrosine 3 gene (FLT3-ITD), female gender, high white blood count (WBC), high amount of bone marrow blasts as well as a high platelet count [1]. In the vast majority of cases NPM1 mutations result in a frameshift due to an insertion of four bases, which cluster in exon 12. Insertions from 2 to 9 bases can occur (e.g. types E, F) [1]
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