Clinical relevance of gene mutations in acute myeloid leukemia with normal karyotype

Authors: B. Katrincsáková;  T. Szotkowski;  M. Divoká;  K. Indrák;  M. Jarošová
Authors‘ workplace: Hemato-onkologická klinika Fakultní nemocnice Olomouc
Published in: Transfuze Hematol. dnes,17, 2011, No. 2, p. 72-80.
Category: Comprehensive Reports, Original Papers, Case Reports


Acute myeloid leukemia (AML) is characterized by distinct clinical and genetic heterogeneity. Chromosomal aberrations are present in about 55% of patients at the time of diagnosis however a large group of AML (about 45%) comprise patients with normal karyotype (NK-AML). In the latter group, gene mutations and changes in expression profiles enable us to allocate subsets with different prognosis. In NK-AML specific mutation profiles are associated with worse prognosis (FLT3-ITD, MLL-PTD mutations) or mark for better prognosis (isolated NPM1 and CEBPA mutations, NPM1mutated AML without FLT3-ITD). Treatment decisions based on molecular stratification however, remain controversial. This review assesses the current insight on the prognostic and therapeutic significance of gene mutations in NK-AML.

Key words:
AML, normal karyotype, mutation, molecular markers, FLT3, NPM1, CEBPA, WT1, IDH1/2


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