نتایج جستجو برای: npm1 mutation

تعداد نتایج: 292091  

2009
Friederike Schneider Eva Hoster Michael Unterhalt Stephanie Schneider Annika Dufour Tobias Benthaus Gudrun Mellert Evelin Zellmeier Stefan K. Bohlander Michaela Feuring-Buske Christian Buske Jan Braess Susanne Fritsch Achim Heinecke Maria C. Sauerland Wolfgang E. Berdel Thomas Buechner Bernhard J. Woermann Wolfgang Hiddemann Karsten Spiekermann

Mutations in the NPM1 gene represent the most frequent genetic alterations in patients with acute myeloid leukemia (AML) and are associated with a favorable outcome. In 690 normal karyotype (NK) AML patients the complete remission rates (CRs) and the percentage of patients with adequate in vivo blast cell reduction 1 week after the end of the first induction cycle were significantly higher in N...

2006
Gerhard Ehninger Christian Thiede Sina Koch Eva Creutzig Christine Steudel Thomas Illmer Markus Schaich Carl Gustav Carus

Mutations of the Nucleophosmin (NPM1) gene have recently been described in patients with AML. To clarify the prevalence as well as the clinical impact of this mutation, we investigated 1485 patients with AML for NPM1 exon 12 mutations using fragment analysis. A 4-bp insert was detected in 408/1485 patients (27.5%). Sequence analysis revealed known mutations (Type A, B, and D) as well as 13 nove...

Journal: :Blood 2005
Tatsuya Suzuki Hitoshi Kiyoi Kazutaka Ozeki Akihiro Tomita Satomi Yamaji Ritsuro Suzuki Yoshihisa Kodera Shuichi Miyawaki Norio Asou Kazutaka Kuriyama Fumiharu Yagasaki Chihiro Shimazaki Hideki Akiyama Miki Nishimura Toshiko Motoji Katsuji Shinagawa Akihiro Takeshita Ryuzo Ueda Tomohiro Kinoshita Nobuhiko Emi Tomoki Naoe

Recently, somatic mutations of the nucleophosmin gene (NPM1), which alter the subcellular localization of the product, have been reported in acute myeloid leukemia (AML). We analyzed the clinical significance of NPM1 mutations in comparison with cytogenetics, FLT3, NRAS, and TP53 mutations, and a partial tandem duplication of the MLL gene (MLL-TD) in 257 patients with AML. We found NPM1 mutatio...

2017
Qin Zou Shi Tan Zailin Yang Qian Zhan Hongjun Jin Jingrong Xian Shuaishuai Zhang Liyuan Yang Lu Wang Ling Zhang

Accumulating evidence has defined nucleophosmin 1 (NPM1) mutation as a driver genetic event in acute myeloid leukemia (AML), whereas the pathogenesis of NPM1-mutated AML remains to be fully elucidated. In this study, we showed that mutant NPM1 elevated autophagic activity and autophagic activation contributed to leukemic cell survival in vitro. Meanwhile, we also found high expression of promye...

2016
Anita Chopra Sushant Soni Haraprasad Pati Dev Kumar Rahul Diwedi Deepak Verma Garima Vishwakama Sameer Bakhshi Suman Kumar Ajay Gogia Rajive Kumar

BACKGROUND & OBJECTIVES Mutation of nucleophosmin (NPM1) gene in the absence of FLT3-ITD (FMS related tyrosine kinase 3 - internal tandem duplications) mutation carries a good prognosis in cytogenetically normal acute myeloid leukaemia (AML). NPM1, a multifunctional nucleolar phosphoprotein that shuttles between nucleus and cytoplasm, gets trapped in the cytoplasm when mutated. Immunohistochemi...

Journal: :Blood 2006
Christian Thiede Sina Koch Eva Creutzig Christine Steudel Thomas Illmer Markus Schaich Gerhard Ehninger

Mutations of the nucleophosmin (NPM1) gene have recently been described in patients with acute myeloid leukemia (AML). To clarify the prevalence as well as the clinical impact of this mutation, we investigated 1485 patients with AML for NPM1 exon 12 mutations using fragment analysis. A 4 bp insert was detected in 408 of 1485 patients (27.5%). Sequence analysis revealed known mutations (type A, ...

2016
Qin Zou Shi Tan Zailin Yang Juan Wang Jingrong Xian Shuaishuai Zhang Hongjun Jin Liyuan Yang Lu Wang Ling Zhang

Mutations in the nucleophosmin 1 (NPM1) gene are the most frequent genetic alteration in acute myeloid leukemia (AML). Here, we showed that enforced expression of NPM1 mutation type A (NPM1-mA) inhibits myeloid differentiation of leukemia cells, whereas knockdown of NPM1-mA has the opposite effect. Our analyses of normal karyotype AML samples from The Cancer Genome Atlas (TCGA) dataset revealed...

2014
Grzegorz Helbig Krzysztof Wozniczka Agnieszka Wieclawek Anna Soja Aleksandra Bartkowska-Chrobok Slawomira Kyrcz-Krzemien

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 ...

Journal: :Haematologica 2014
Annette Fasan Claudia Haferlach Alexander Kohlmann Frank Dicker Christiane Eder Wolfgang Kern Torsten Haferlach Susanne Schnittger

Recently, Mendler et al. reported a low incidence of 4 of 472 (0.85%) acute myeloid leukemia (AML) cases that carried concurrent NPM1 and RUNX1 mutations. Interestingly, they found that RUNX1 mutations in these rare cases with concurrent NPM1 mutations were structurally unusual when compared to RUNX1 mutations observed in NPM1 wild-type cases. All these 4 cases had RUNX1 mutations that were in-...

Journal: :Blood 2005
Roel G W Verhaak Chantal S Goudswaard Wim van Putten Maarten A Bijl Mathijs A Sanders Wendy Hugens André G Uitterlinden Claudia A J Erpelinck Ruud Delwel Bob Löwenberg Peter J M Valk

Mutations in nucleophosmin NPM1 are the most frequent acquired molecular abnormalities in acute myeloid leukemia (AML). We determined the NPM1 mutation status in a clinically and molecularly well-characterized patient cohort of 275 patients with newly diagnosed AML by denaturing high-performance liquid chromatography (dHPLC). We show that NPM1 mutations are significantly underrepresented in pat...

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