Acute myeloid leukemia with mutated NPM1: diagnosis, prognosis and therapeutic perspectives.
OBJECTIVE
Nucleophosmin (NPM1) gene mutations, which cause aberrant cytoplasmic expression of nucleophosmin (NPMc+), are the most frequent genetic alteration in acute myeloid leukemia (AML), being found in about 30% cases. The present review summarizes recent advances in the biology, diagnosis, prognosis and therapy of NPM1-mutated AML.


RESULTS
Diagnostic criteria of NPM1-mutated AML are discussed in the light of its recent inclusion in the 2008 WHO classification of myeloid neoplasms. We also outline the most recent findings on prognosis and monitoring of minimal residual disease in NPM1-mutated AML and their implications for therapeutic decisions. Moreover, new insights are presented into the molecular mechanisms underlying perturbed nucleophosmin traffic in NPM1-mutated AML, which provides the rationale for the development of targeted therapies.


CONCLUSIONS
AML with mutated NPM1 is a leukemia entity with distinct molecular, pathological, and prognostic features.
Falini
Brunangelo
B
Institute of Hematology, University of Perugia, Perugia, Italy. faliniem@unipg.itBack to Top
Sportoletti
Paolo
P
Martelli
Maria Paola
MP
D000208:Acute Disease; D001483:Base Sequence; D020022:Genetic Predisposition to Disease; D006801:Humans; D007951:Leukemia, Myeloid / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D008969:Molecular Sequence Data; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D000090243:Nucleophosmin; D011379:Prognosis
C000716967:NPM1 protein, human; D009687:Nuclear Proteins; D000090243:Nucleophosmin