نتایج جستجو برای: ژن npm1

تعداد نتایج: 16927  

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: :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...

Journal: :Cancer research 2010
Ayaka Koike Hiroyuki Nishikawa Wenwen Wu Yukinori Okada Ashok R Venkitaraman Tomohiko Ohta

Protein accumulation at DNA double-strand breaks (DSB) is essential for genome stability; however, the mechanisms governing these events are not fully understood. Here, we report a new role for the nucleophosmin protein NPM1 in these mechanisms. Thr199-phosphorylated NPM1 (pT199-NPM1) is recruited to nuclear DNA damage foci induced by ionizing radiation (IR). Foci formation is impaired by deple...

2014
G Webersinke W Kranewitter S Deutschbauer O Zach S Hasenschwandtner K Wiesinger M Erdel R Marschon A Böhm G Tschurtschenthaler

Mutations in exon 12 of the nucleophosmin (NPM1) gene have been described as primary leukemogenic event in up to 35% of adult acute myelogenous leukemia (AML) cases, mainly those with normal karyotype. This type of AML is listed as provisional entity in the World Health Organization classification of tumors of the hematopoietic and lymphoid tissues 2008. NPM1 mutation status has improved risk s...

Journal: :Journal of Hematology and Oncology 2008
Angela YC Tan David A Westerman Dennis A Carney John F Seymour Surender Juneja Alexander Dobrovic

BACKGROUND Molecular characterisation of normal karyotype acute myeloid leukemia (NK-AML) allows prognostic stratification and potentially can alter treatment choices and pathways. Approximately 45-60% of patients with NK-AML carry NPM1 gene mutations and are associated with a favourable clinical outcome when FLT3-internal tandem duplications (ITD) are absent. High resolution melting (HRM) is a...

2005
Susanne Schnittger Claudia Schoch Wolfgang Kern Cristina Mecucci Claudia Tschulik Massimo F. Martelli Torsten Haferlach Wolfgang Hiddemann Brunangelo Falini

Nucleophosmin (NPM1) exon-12 gene mutations are the hallmark of a large acute myelogenous leukemia (AML) subgroup with normal karyotype, but their prognostic value in this AML subset has not yet been determined. We screened 401 AML patients with normal karyotype treated within the German AML Cooperative Group Protocol 99 (AMLCG99) study for NPM1 mutations. Results were related with partial tand...

2016
Damien Destouches Maha Sader Stéphane Terry Charles Marchand Pascale Maillé Pascale Soyeux Gilles Carpentier Fannie Semprez Jocelyn Céraline Yves Allory José Courty Alexandre De La Taille Francis Vacherot

Despite the advent of several new treatment options over the past years, advanced/metastatic prostate carcinoma (PCa) still remains incurable, which justifies the search for novel targets and therapeutic molecules. Nucleophosmin (NPM1) is a shuttling nucleoprotein involved in tumor growth and its targeting could be a potential approach for cancer therapy. We previously demonstrated that the mul...

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...

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