@Article{Helbig2014,
journal="Contemporary Oncology/Współczesna Onkologia",
issn="1428-2526",
volume="18",
number="4",
year="2014",
title="Clinical relevance of mutant NPM1 and CEBPA in patients with acute myeloid leukaemia – preliminary report",
abstract=" Aim of the study:  Mutant  NPM1  and  CEBPA  have been reported in patients with acute myeloid leukaemia (AML) and intermediate cytogenetic risk, and they appear to be associated with characteristic demographic and laboratory data, as well as clinical outcome. The objective of the study was to assess the clinical relevance of  NPM1  and  CEBPA  mutations in AML.    Material and methods:  This retrospective analysis was based on 60 newly diagnosed patients with AML and normal/no metaphases karyotype and known mutation status, who were treated in our centre between 2008 and 2011 according to the PALG (Polish Adult Leukaemia Group) study protocol. Pretreatment bone marrow samples were studied by G-banding analysis, and  NPM1 ,  CEBPA , and  FLT3-ITD  mutations were detected by polymerase chain reaction (PCR).   Results :  NPM1  mutations were detected in 21 AML patients (35%). In the  NPM1 -positive subgroup, the  FLT3-ITD  mutation was observed in 3 cases (14%), which was significantly less frequent than in the  NPM1 -negative patients, where  FLT3-ITD  was detected in 16 cases (41%; p = 0.04). Among the  CEBPA -positive population (n = 11; 18%), none of the studied patients had  FLT3-ITD  mutation, whereas it was detected in 19  CEBPA -negative patients (0% vs. 38%; p = 0.01). The highest complete remission rate was reported for the  NPM1 -positive/ FLT3-ITD -negative group (n = 18; 88%) and the  CEBPA -positive/ FLT3-ITD -negative group (n = 8; 73%). For OS, multivariable analysis revealed  NPM1 -positive/ FLT3-ITD -negative (HR: 0.18, 95% CI: 0.19–0.63) and  CEBPA -positive/ FLT3-ITD -negative (HR: 0.35, 95% CI: 0.19–0.63) as favourable prognostic factors. The presence of the  NPM1 -negative/ FLT3-ITD -positivecombination predicted adverse overall survival (HR: 2.03, 95% CI: 1.13–3.66).   Conclusions:   NPM1  and  CEBPA  mutations are associated with clinical outcome in AML patients.",
author="Helbig, Grzegorz
and Wozniczka, Krzysztof
and Wieclawek, Agnieszka
and Soja, Anna
and Bartkowska-Chrobok, Aleksandra
and Kyrcz-Krzemien, Slawomira",
pages="241--245",
doi="10.5114/wo.2014.43490",
url="http://dx.doi.org/10.5114/wo.2014.43490"
}