نتایج جستجو برای: npm1 mutation

تعداد نتایج: 292091  

2015
Yi Zhu Minmin Shi Hao Chen Jiangning Gu Jiaqiang Zhang Baiyong Shen Xiaxing Deng Junjie Xie Xi Zhan Chenghong Peng

The nucleophosmin (NPM1) activates cancer development and progression in many malignant tumors. However, the regulatory role and underlying mechanisms of NPM1 in pancreatic cancer are unknown. In this study, we showed that NPM1 was up-regulated in PDAC, which indicated a poor prognosis. We also identified NPM1 could stimulate aerobic glycolysis and repress fructose-1, 6-bisphosphatase 1 (FBP1) ...

Journal: :Blood 2010
Saman Abbas Sanne Lugthart François G Kavelaars Anita Schelen Jasper E Koenders Annelieke Zeilemaker Wim J L van Putten Anita W Rijneveld Bob Löwenberg Peter J M Valk

Somatic mutations in isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) were recently demonstrated in acute myeloid leukemia (AML), but their prevalence and prognostic impact remain to be explored in large extensively characterized AML series, and also in various other hematologic malignancies. Here, we demonstrate in 893 newly diagnosed cases of AML mutations in the IDH1 (6%) and IDH2 (11%) gene...

ژورنال: :مجله علمی دانشگاه علوم پزشکی گرگان 0
زهره صناعت sanaat z کریم شمس shams k بابک نجاتی nejati b علی اکبر موثق پور movasghpour ak ویدا ایمانی imani v مجید مقدس زاده moghadaszadeh m تبریز، خیابان دانشگاه، بیمارستان امام رضا (ع)، دفتر گروه داخلی، تلفن و نمابر 3373966-0411

زمینه و هدف : لوسمی حاد میلوییدی یک بیماری بدخیم بافت خونساز است که با تجمع سلول های غیرطبیعی و تمایزنیافته به نام سلول های بلاستیک میلوئیدی در مغز استخوان و اختلال تولید سلول های طبیعی خونی مشخص می شود. این مطالعه به منظور تعیین جهش ژنی flt3 و npm1 و یافته های آزمایشگاهی در بیماران مبتلا به لوسمی حاد میلوییدی در شمال غرب ایران انجام شد. روش بررسی : این مطالعه توصیفی - تحلیلی روی 40 بیمار (24 م...

2015
Rimma Berenstein Igor Wolfgang Blau Nikola Suckert Claudia Baldus Antonio Pezzutto Bernd Dörken Olga Blau

BACKGROUND DNMT3A mutations represent one of the most frequent gene alterations detectable in acute myeloid leukemia (AML) with normal karyotype. Although various recurrent somatic mutations of DNMT3A have been described, the most common mutation is located at R882 in the methyltransferase domain of the gene. Because of their prognostic significance and high stability during disease evolution, ...

ایمانی, ویدا, شمس, کریم, صناعت, زهره, مقدس زاده, مجید, موثق پور, علی اکبر, نجاتی, بابک,

زمینه و هدف : لوسمی حاد میلوییدی یک بیماری بدخیم بافت خونساز است که با تجمع سلول‌های غیرطبیعی و تمایزنیافته به‌نام سلول‌های بلاستیک میلوئیدی در مغز استخوان و اختلال تولید سلول‌های طبیعی خونی مشخص می‌شود. این مطالعه به منظور تعیین جهش ژنی FLT3 و NPM1 و یافته‌های آزمایشگاهی در بیماران مبتلا به لوسمی حاد میلوییدی در شمال غرب ایران انجام شد. روش بررسی : این مطالعه توصیفی - تحلیلی روی 40 بیمار (24 ...

Journal: :The New England journal of medicine 2016
Adam Ivey Robert K Hills Michael A Simpson Jelena V Jovanovic Amanda Gilkes Angela Grech Yashma Patel Neesa Bhudia Hassan Farah Joanne Mason Kerry Wall Susanna Akiki Michael Griffiths Ellen Solomon Frank McCaughan David C Linch Rosemary E Gale Paresh Vyas Sylvie D Freeman Nigel Russell Alan K Burnett David Grimwade

BACKGROUND Despite the molecular heterogeneity of standard-risk acute myeloid leukemia (AML), treatment decisions are based on a limited number of molecular genetic markers and morphology-based assessment of remission. Sensitive detection of a leukemia-specific marker (e.g., a mutation in the gene encoding nucleophosmin [NPM1]) could improve prognostication by identifying submicroscopic disease...

Journal: :Blood 2012
Jochen Greiner Yoko Ono Susanne Hofmann Anita Schmitt Elmar Mehring Marlies Götz Philippe Guillaume Konstanze Döhner Joannis Mytilineos Hartmut Döhner Michael Schmitt

Mutations in the nucleophosmin gene (NPM1(mut)) are one of the most frequent molecular alterations in acute myeloid leukemia (AML), and immune responses may contribute to the favorable prognosis of AML patients with NPM1(mut). In the present study, we were able to demonstrate both CD4(+) and CD8(+) T-cell responses against NPM1(mut). Ten peptides derived from wild-type NPM1 and NPM1(mut) were s...

Journal: :Blood 2009
Ruben A Mesa

tions. It is tempting to speculate that these cases are linked by a common underlying mutation that predisposes to DNA replication errors. What “unlinks” WT1 and NPM1 are their different prognostic influences. This study makes it clear that WT1 mutations are associated with unfavorable outcomes in childhood AML, as shown in the figure. Another important difference between WT1 and NPM1 mutations...

Journal: :Haematologica 2008
Brunangelo Falini Maria Paola Martelli Cristina Mecucci Arcangelo Liso Niccolò Bolli Barbara Bigerna Alessandra Pucciarini Stefano Pileri Giovanna Meloni Massimo F Martelli Torsten Haferlach Susanne Schnittger

We investigated the NPM1 mutation status or subcellular expression of NPM protein (nuclear vs. aberrant cytoplasmic) at diagnosis and relapse in 125 patients with acute myeloid leukemia from Italy and Germany. All 52 patients with acute myeloidleukemia carrying at diagnosis mutated or cytoplasmic NPM (NPMc(+) acute myeloid leukemia) retained this feature at relapse. Notably, cytoplasmic mutated...

Journal: :The EMBO journal 2011
Fumihiko Sagawa Hend Ibrahim Angela L Morrison Carol J Wilusz Jeffrey Wilusz

During polyadenylation, the multi-functional protein nucleophosmin (NPM1) is deposited onto all cellular mRNAs analysed to date. Premature termination of poly(A) tail synthesis in the presence of cordycepin abrogates deposition of the protein onto the mRNA, indicating natural termination of poly(A) addition is required for NPM1 binding. NPM1 appears to be a bona fide member of the complex invol...

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