نتایج جستجو برای: npm1 mutation

تعداد نتایج: 292091  

2015
Fengfeng Wang Lawrence W C Chan Nancy B Y Tsui S C Cesar Wong Parco M Siu S P Yip Benjamin Y M Yung

BACKGROUND Nucleophosmin 1 (NPM1) plays an important role in ribosomal synthesis and malignancies, but NPM1 mutations occur rarely in the blast-crisis and chronic-phase chronic myelogenous leukemia (CML) patients. The NPM1-associated gene set (GCM_NPM1), in total 116 genes including NPM1, was chosen as the candidate gene set for the coexpression analysis. We wonder if NPM1-associated genes can ...

Journal: :Blood 2013
Roland B Walter Megan Othus Alan K Burnett Bob Löwenberg Hagop M Kantarjian Gert J Ossenkoppele Robert K Hills Kees G M van Montfort Farhad Ravandi Anna Evans Sherry R Pierce Frederick R Appelbaum Elihu H Estey

The World Health Organization (WHO) classifies acute myeloid leukemia (AML) via genetic, immunophenotypic, biological, and clinical features. Still, "AML, not otherwise specified (NOS)" is further subdivided based on morphologic criteria similar to those of the French-American-British (FAB) classification. We analyzed the relevance of this practice in patients with newly diagnosed "AML, NOS" wi...

2014
Mattia Poletto Lisa Lirussi David M. Wilson Gianluca Tell

Nucleophosmin (NPM1) is a multifunctional protein that controls cell growth and genome stability via a mechanism that involves nucleolar-cytoplasmic shuttling. It is clear that NPM1 also contributes to the DNA damage response, yet its exact function is poorly understood. We recently linked NPM1 expression to the functional activation of the major abasic endonuclease in mammalian base excision r...

Journal: :Blood 2013
Jan Krönke Lars Bullinger Veronica Teleanu Florian Tschürtz Verena I Gaidzik Michael W M Kühn Frank G Rücker Karlheinz Holzmann Peter Paschka Silke Kapp-Schwörer Daniela Späth Thomas Kindler Marcus Schittenhelm Jürgen Krauter Arnold Ganser Gudrun Göhring Brigitte Schlegelberger Richard F Schlenk Hartmut Döhner Konstanze Döhner

Mutations in the nucleophosmin 1 (NPM1) gene are considered a founder event in the pathogenesis of acute myeloid leukemia (AML). To address the role of clonal evolution in relapsed NPM1-mutated (NPM1mut) AML, we applied high-resolution, genome-wide, single-nucleotide polymorphism array profiling to detect copy number alterations (CNAs) and uniparental disomies (UPDs) and performed comprehensive...

Journal: :Blood 2014
Felicitas Thol Robin Bollin Marten Gehlhaar Carolin Walter Martin Dugas Karl Josef Suchanek Aylin Kirchner Liu Huang Anuhar Chaturvedi Martin Wichmann Lutz Wiehlmann Rabia Shahswar Frederik Damm Gudrun Göhring Brigitte Schlegelberger Richard Schlenk Konstanze Döhner Hartmut Döhner Jürgen Krauter Arnold Ganser Michael Heuser

Mutations in the cohesin complex are novel, genetic lesions in acute myeloid leukemia (AML) that are not well characterized. In this study, we analyzed the frequency, clinical, and prognostic implications of mutations in STAG1, STAG2, SMC1A, SMC3, and RAD21, all members of the cohesin complex, in a cohort of 389 uniformly treated AML patients by next generation sequencing. We identified a total...

2011
Olivier LaRochelle Sarah Bertoli François Vergez Jean-Emmanuel Sarry Véronique Mansat-De Mas Sophie Dobbelstein Nicole Dastugue Anne-Claire Strzelecki Cindy Cavelier Laurent Creancier Arnaud Pillon Anna Kruczynski Cécile Demur Audrey Sarry Françoise Huguet Anne Huynh Christian Récher Eric Delabesse

Mutations in DNMT3A encoding DNA methyltransferase 3A were recently described in patients with acute myeloid leukemia. To assess their prognostic significance, we determined the mutational status of DNMT3A exon 23 in 288 patients with AML excluding acute promyelocytic leukemia, aged from 18 to 65 years and treated in Toulouse University Hospital. A mutation was detected in 39 patients (13.5%). ...

2014
Juliette Lambert Jérôme Lambert Olivier Nibourel Cécile Pautas Sandrine Hayette Jean-Michel Cayuela Christine Terré Philippe Rousselot Hervé Dombret Sylvie Chevret Claude Preudhomme Sylvie Castaigne Aline Renneville

We analysed the prognostic significance of minimal residual disease (MRD) level in adult patients with acute myeloid leukemia (AML) treated in the randomized gemtuzumab ozogamicin (GO) ALFA-0701 trial. Levels of WT1 and NPM1 gene transcripts were assessed using cDNA-based real-time quantitative PCR in 183 patients with WT1 overexpression and in 77 patients with NMP1 mutation (NPM1mut) at diagno...

Journal: :Blood 2009
Jih-Luh Tang Hsin-An Hou Chien-Yuan Chen Chieh-Yu Liu Wen-Chien Chou Mei-Hsuan Tseng Chi-Fei Huang Fen-Yu Lee Ming-Chih Liu Ming Yao Shang-Yi Huang Bor-Sheng Ko Szu-Chun Hsu Shang-Ju Wu Woei Tsay Yao-Chang Chen Liang-In Lin Hwei-Fang Tien

Somatic mutation of the AML1/RUNX1(RUNX1) gene is seen in acute myeloid leukemia (AML) M0 subtype and in AML transformed from myelodysplastic syndrome, but the impact of this gene mutation on survival in AML patients remains unclear. In this study, we sought to determine the clinical implications of RUNX1 mutations in 470 adult patients with de novo non-M3 AML. Sixty-three distinct RUNX1 mutati...

2015
Tracy E. Schmidt ELLEN SCHMIDT

The nucleolus is a plurifunctional organelle with dynamic protein exchange involved in diverse aspects of cell biology. Additionally, the nucleolus has been shown to have a role in the replication of numerous viruses, which includes HIV-1. Several groups have reported HIV-1 vRNA localization within the nucleolus. Moreover, it has been demonstrated the HIV-1 Rev protein localizes to the nucleolu...

Journal: :Blood 2007
Brunangelo Falini Ildo Nicoletti Massimo F Martelli Cristina Mecucci

The nucleophosmin (NPM1) gene encodes for a multifunctional nucleocytoplasmic shuttling protein that is localized mainly in the nucleolus. NPM1 mutations occur in 50% to 60% of adult acute myeloid leukemia with normal karyotype (AML-NK) and generate NPM mutants that localize aberrantly in the leukemic-cell cytoplasm, hence the term NPM-cytoplasmic positive (NPMc+ AML). Cytoplasmic NPM accumulat...

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