PURPOSE OF REVIEW: 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. RECENT FINDINGS: 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. SUMMARY: AML with mutated NPM1 is a leukemia entity with distinct molecular, pathological, and prognostic features.
PURPOSE OF REVIEW: 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. RECENT FINDINGS: 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. SUMMARY:AML with mutated NPM1 is a leukemia entity with distinct molecular, pathological, and prognostic features.
Authors: Cailin Collins; Jingya Wang; Hongzhi Miao; Joel Bronstein; Humaira Nawer; Tao Xu; Maria Figueroa; Andrew G Muntean; Jay L Hess Journal: Proc Natl Acad Sci U S A Date: 2014-06-23 Impact factor: 11.205
Authors: Max Hubmann; Thomas Köhnke; Eva Hoster; Stephanie Schneider; Annika Dufour; Evelyn Zellmeier; Michael Fiegl; Jan Braess; Stefan K Bohlander; Marion Subklewe; Maria-Cristina Sauerland; Wolfgang E Berdel; Thomas Büchner; Bernhard Wörmann; Wolfgang Hiddemann; Karsten Spiekermann Journal: Haematologica Date: 2014-05-09 Impact factor: 9.941