نتایج جستجو برای: npm1 mutation

تعداد نتایج: 292091  

Journal: :Blood 2015
Hiba El Hajj Zeina Dassouki Caroline Berthier Emmanuel Raffoux Lionel Ades Olivier Legrand Rita Hleihel Umut Sahin Nadim Tawil Ala Salameh Kazem Zibara Nadine Darwiche Mohamad Mohty Hervé Dombret Pierre Fenaux Hugues de Thé Ali Bazarbachi

Nucleophosmin-1 (NPM1) is the most frequently mutated gene in acute myeloid leukemia (AML). Addition of retinoic acid (RA) to chemotherapy was proposed to improve survival of some of these patients. Here, we found that RA or arsenic trioxide synergistically induce proteasomal degradation of mutant NPM1 in AML cell lines or primary samples, leading to differentiation and apoptosis. NPM1 mutation...

Journal: :Blood 2012
Friederike Schneider Eva Hoster Michael Unterhalt Stephanie Schneider Annika Dufour Tobias Benthaus Gudrun Mellert Evelyn Zellmeier Purvi M Kakadia Stefan K Bohlander Michaela Feuring-Buske Christian Buske Jan Braess Achim Heinecke Maria C Sauerland Wolfgang E Berdel Thomas Büchner Bernhard J Wörmann Wolfgang Hiddemann Karsten Spiekermann

The impact of a FLT3-internal tandem duplication (FLT3ITD) on prognosis of patients with acute myeloid leukemia (AML) is dependent on the ratio of mutated to wild-type allele. In 648 normal karyotype (NK) AML patients, we found a significant independent effect of the quantitative FLT3ITD mRNA level--measured as (FLT3ITD/wtFLT3)/(FLT3ITD/wtFLT3+1)--on outcome. Moreover, this effect was clearly s...

2013
Yongbum Jeon Sang Won Seo Seonyang Park Seungman Park So Yeon Kim Eun Kyung Ra Sung Sup Park Moon-Woo Seong

BACKGROUND Genetic abnormalities in adult AML are caused most frequently by somatic mutations in exon 12 of the NPM1 gene, which is observed in approximately 35% of AML patients and up to 60% of patients with cytogenetically normal AML (CN-AML). METHODS We performed mutational analysis, including fragment analysis and direct sequencing of exon 12 of the NPM1 gene, on 83 AML patients to charac...

Journal: :Blood 2005
Konstanze Döhner Richard F Schlenk Marianne Habdank Claudia Scholl Frank G Rücker Andrea Corbacioglu Lars Bullinger Stefan Fröhling Hartmut Döhner

To assess the prognostic relevance of mutations in the NPM1 gene encoding a nucleocytoplasmic shuttle protein in younger adults with acute myeloid leukemia (AML) and normal cytogenetics, sequencing of NPM1 exon 12 was performed in diagnostic samples from 300 patients entered into 2 consecutive multicenter trials of the AML Study Group (AMLSG). Treatment included intensive double-induction thera...

Journal: :Blood 2010
Maria Paola Martelli Valentina Pettirossi Christian Thiede Elisabetta Bonifacio Federica Mezzasoma Debora Cecchini Roberta Pacini Alessia Tabarrini Raffaella Ciurnelli Ilaria Gionfriddo Nicla Manes Roberta Rossi Linda Giunchi Uta Oelschlägel Lorenzo Brunetti Marica Gemei Mario Delia Giorgina Specchia Arcangelo Liso Mauro Di Ianni Francesco Di Raimondo Franca Falzetti Luigi Del Vecchio Massimo F Martelli Brunangelo Falini

Acute myeloid leukemia (AML) with mutated NPM1 shows distinctive biologic and clinical features, including absent/low CD34 expression, the significance of which remains unclear. Therefore, we analyzed CD34(+) cells from 41 NPM1-mutated AML. At flow cytometry, 31 of 41 samples contained less than 10% cells showing low intensity CD34 positivity and variable expression of CD38. Mutational analysis...

Journal: :Blood 2009
Claudia Haferlach Cristina Mecucci Susanne Schnittger Alexander Kohlmann Marco Mancini Antonio Cuneo Nicoletta Testoni Giovanna Rege-Cambrin Antonella Santucci Marco Vignetti Paola Fazi Maria Paola Martelli Torsten Haferlach Brunangelo Falini

Acute myeloid leukemia (AML) with mutated NPM1 usually carries normal karyotype (NK), but it may harbor chromosomal aberrations whose significance remains unclear. We addressed this question in 631 AML patients with mutated/cytoplasmic NPM1. An abnormal karyotype (AK) was present in 93 of 631 cases (14.7%), the most frequent abnormalities being +8, +4, -Y, del(9q), +21. Chromosome aberrations i...

2005
Konstanze Döhner Richard F. Schlenk Marianne Habdank Claudia Scholl Frank G. Rücker Andrea Corbacioglu Lars Bullinger Stefan Fröhling

To assess the prognostic relevance of mutations in the NPM1 gene encoding a nucleocytoplasmic shuttle protein in younger adults with acute myeloid leukemia (AML) and normal cytogenetics, sequencing of NPM1 exon 12 was performed in diagnostic samples from 300 patients entered into 2 consecutive multicenter trials of the AML Study Group (AMLSG). Treatment included intensive double-induction thera...

Journal: :The Journal of biological chemistry 2013
Koji Ando Hideki Tsushima Emi Matsuo Kensuke Horio Shinya Tominaga-Sato Daisuke Imanishi Yoshitaka Imaizumi Masako Iwanaga Hidehiro Itonaga Shinichiro Yoshida Tomoko Hata Ryozo Moriuchi Hitoshi Kiyoi Stephen Nimer Hiroyuki Mano Tomoki Naoe Masao Tomonaga Yasushi Miyazaki

Myeloid ELF1-like factor (MEF/ELF4), a member of the ETS transcription factors, can function as an oncogene in murine cancer models and is overexpressed in various human cancers. Here, we report a mechanism by which MEF/ELF4 may be activated by a common leukemia-associated mutation in the nucleophosmin gene. By using a tandem affinity purification assay, we found that MEF/ELF4 interacts with mu...

Journal: :Blood 2011
Claire L Green Catherine M Evans Lu Zhao Robert K Hills Alan K Burnett David C Linch Rosemary E Gale

We have investigated the prognostic significance of isocitrate dehydrogenase 2 (IDH2) mutations in 1473 younger adult acute myeloid leukemia patients treated in 2 United Kingdom Medical Research Council trials. An IDH2 mutation was present in 148 cases (10%), 80% at R140 and 20% at R172. Patient characteristics and outcome differed markedly between the 2 mutations. IDH2(R140) significantly corr...

2014
Yin Liu Jingyan Tang Peter Wakamatsu Huiliang Xue Jing Chen Paul S. Gaynon Shuhong Shen Weili Sun

BACKGROUND Molecular genetic alterations with prognostic significance have been described in childhood acute myeloid leukemia (AML). The aim of this study was to establish cost-effective techniques to detect mutations of FMS-like tyrosine kinase 3 (FLT3), nucleophosmin 1 (NPM1), and a partial tandem duplication within the mixed-lineage leukemia (MLL-PTD) genes in childhood AML. PROCEDURE Nine...

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