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Sökning: WFRF:(Blakemore A.) > EGR2 mutations defi...

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FältnamnIndikatorerMetadata
00010495naa a2200877 4500
001oai:DiVA.org:uu-314928
003SwePub
008170207s2017 | |||||||||||000 ||eng|
009oai:prod.swepub.kib.ki.se:136136922
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-3149282 URI
0247 a https://doi.org/10.1038/leu.2016.3592 DOI
0247 a http://kipublications.ki.se/Default.aspx?queryparsed=id:1361369222 URI
040 a (SwePub)uud (SwePub)ki
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Young, Emma,d 1990-u Uppsala universitet,Experimentell och klinisk onkologi,Richard Rosenquist Brandell4 aut0 (Swepub:uu)emmyo327
2451 0a EGR2 mutations define a new clinically aggressive subgroup of chronic lymphocytic leukemia
264 c 2016-11-28
264 1b Springer Science and Business Media LLC,c 2017
338 a print2 rdacarrier
500 a E.Y. and D.N. contributed equally to this study as joint first authors.R.R. and F.D. contributed equally as joint senior authors.
520 a Recurrent mutations within EGR2 were recently reported in advanced-stage chronic lymphocytic leukemia (CLL) patients and associated with a worse outcome. To study their prognostic impact, 2403 CLL patients were examined for mutations in the EGR2 hotspot region including a screening (n = 1283) and two validation cohorts (UK CLL4 trial patients, n = 366; CLL Research Consortium (CRC) patients, n = 490). Targeted deep-sequencing of 27 known/postulated CLL driver genes was also performed in 38 EGR2-mutated patients to assess concurrent mutations. EGR2 mutations were detected in 91/2403 (3.8%) investigated cases, and associated with younger age at diagnosis, advanced clinical stage, high CD38 expression and unmutated IGHV genes. EGR2- mutated patients frequently carried ATM lesions (42%), TP53 aberrations (18%) and NOTCH1/FBXW7 mutations (16%). EGR2 mutations independently predicted shorter time-to-first-treatment (TTFT) and overall survival (OS) in the screening cohort; they were confirmed associated with reduced TTFT and OS in the CRC cohort and independently predicted short OS from randomization in the UK CLL4 cohort. A particularly dismal outcome was observed among EGR2-mutated patients who also carried TP53 aberrations. In summary, EGR2 mutations were independently associated with an unfavorable prognosis, comparable to CLL patients carrying TP53 aberrations, suggesting that EGR2-mutated patients represent a new patient subgroup with very poor outcome.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng
653 a Oncology
653 a Onkologi
7001 a Noerenberg, Danielu Department of Hematology, Oncology, and Tumor Immunology, Charité, University Medical Center, Berlin, Germany4 aut
7001 a Mansouri, Larryu Uppsala universitet,Experimentell och klinisk onkologi,Science for Life Laboratory, SciLifeLab,Richard Rosenquist Brandell4 aut0 (Swepub:uu)maman377
7001 a Ljungström, Viktor,d 1986-u Uppsala universitet,Experimentell och klinisk onkologi,Science for Life Laboratory, SciLifeLab,Richard Rosenquist Brandell4 aut0 (Swepub:uu)viklj600
7001 a Frick, Mareikeu Department of Hematology, Oncology, and Tumor Immunology, Charité, University Medical Center, Berlin, Germany4 aut
7001 a Sutton, Lesley Annu Karolinska Institutet,Uppsala universitet,Experimentell och klinisk onkologi,Science for Life Laboratory, SciLifeLab,Richard Rosenquist4 aut0 (Swepub:uu)lessu455
7001 a Blakemore, Stuart Jamesu Cancer Sciences, Faculty of Medicine, University of Southampton, Southampton, UK4 aut
7001 a Galan-Sousa, Joelu Department of Hematology, Oncology, and Tumor Immunology, Charité, University Medical Center, Berlin, Germany4 aut
7001 a Plevova, Karlau Central European Institute of Technology, Masaryk University and University Hospital Brno, Brno, Czech Republic4 aut
7001 a Baliakas, Panagiotis,d 1977-u Uppsala universitet,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:uu)panba345
7001 a Rossi, Davideu Division of Hematology, Department of Translational Medicine, Amedeo Avogadro University of Eastern Piedmont, Novara, Italy and Hematology, Oncology Institute of Southern Switzerland and Institute of Oncology Research, Bellinzona, Switzerland4 aut
7001 a Ruth, Cliffordu Oxford National Institute for Health Research Biomedical Research Centre and Department of Oncology, University of Oxford, Oxford, UK4 aut
7001 a Roos-Weil, Damienu INSERM, U1170, Institut Gustave Roussy, Villejuif, France4 aut
7001 a Navrklova, Veronikau European Institute of Technology, Masaryk University and University Hospital Brno, Brno, Czech Republic4 aut
7001 a Dörken, Berndu Department of Hematology, Oncology, and Tumor Immunology, Charité, University Medical Center, Berlin, Germany4 aut
7001 a Schmitt, Clemens Au Department of Hematology, Oncology, and Tumor Immunology, Charité, University Medical Center, Berlin, Germany4 aut
7001 a Ekström Smedby, Karinu Karolinska Institutet4 aut
7001 a Juliusson, Gunnaru Department of Laboratory Medicine, Stem Cell Center, Lund University, Lund, Sweden4 aut
7001 a Giacopelli, Brianu Division of Hematology, Department of Internal Medicine, The Ohio State University, Columbus, OH, USA4 aut
7001 a Blachly, Jamesu Division of Hematology, Department of Internal Medicine, The Ohio State University, Columbus, OH, USA4 aut
7001 a Belessi, Chrysoulau Hematology Department, General Hospital of Nikea, Piraeus, Greece4 aut
7001 a Panayiotidis, Panayiotisu First Department of Propaedeutic Medicine, School of Medicine, University of Athens, Athens, Greece4 aut
7001 a Chiorazzi, Nicholasu Karches Center for Chronic Lymphocytic Leukemia Research, The Feinstein Institute for Medical Research, Manhasset, New York, USA4 aut
7001 a Davi, Frédéricu Laboratory of Hematology and Universite Pierre et Marie Curie, Hopital Pitie-Salpetriere, Paris, France4 aut
7001 a Langerak, Anton Wu Department of Immunology, Laboratory for Medical Immunology, Erasmus MC, University Medical Center, Rotterdam, The Netherlands4 aut
7001 a Oscier, Davidu Department of Molecular Pathology, Royal Bournemouth Hospital, Bournemouth, UK4 aut
7001 a Schuh, Annau Oxford National Institute for Health Research Biomedical Research Centre and Department of Oncology, University of Oxford, Oxford, UK4 aut
7001 a Gaidano, Gianlucau Division of Hematology, Department of Translational Medicine, Amedeo Avogadro University of Eastern Piedmont, Novara, Italy4 aut
7001 a Ghia, Paolou Università Vita-Salute San Raffaele, Milan, Italy and Division of Experimental Oncology and Department of Onco-Hematology, Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele Scientific Institute, Milan, Italy4 aut
7001 a Xu, Weiu Department of Hematology, the First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital, Collaborative Innovation Center For Cancer Personalized Medicine, Nanjing, China4 aut
7001 a Fan, Leiu Department of Hematology, the First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital, Collaborative Innovation Center For Cancer Personalized Medicine, Nanjing, China4 aut
7001 a Bernard, Olivier Au INSERM, U1170, Institut Gustave Roussy, Villejuif, France4 aut
7001 a Nguyen-Khac, Florenceu Laboratory of Hematology and Universite Pierre et Marie Curie, Hopital Pitie-Salpetriere, Paris, France4 aut
7001 a Rassenti, Laura Zu Division of Hematology/Oncology, Department of Medicine, University of California at San Diego/Moores Cancer Center, La Jolla, CA, USA4 aut
7001 a Li, Jianyonglmu Department of Hematology, the First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital, Collaborative Innovation Center For Cancer Personalized Medicine, Nanjing, China4 aut
7001 a Kipps, Thomas Ju Division of Hematology, Department of Internal Medicine, The Ohio State University, Columbus, OH, USA4 aut
7001 a Stamatopoulos, Kostasu Uppsala universitet,Experimentell och klinisk onkologi,Science for Life Laboratory, SciLifeLab,Department of Immunology, Genetics, and Pathology, Science for Life Laboratory, Uppsala University, Sweden and Institute of Applied Biosciences, Center for Research and Technology Hellas, Thessaloniki, Greece4 aut0 (Swepub:uu)kosst292
7001 a Pospisilova, Sarkau Central European Institute of Technology, Masaryk University and University Hospital Brno, Brno, Czech Republic4 aut
7001 a Zenz, Thorstenu Department of Molecular Therapy in Haematology and Oncology (G250) and Department of Translational Oncology, National Center for Tumor Diseases (NCT), German Cancer Research Center (DKFZ), Heidelberg, Germany; Department of Medicine V, University Hospital Heidelberg, Heidelberg, Germany and German Consortium for Translational Cancer Research (DKTK), Heidelberg, Germany4 aut
7001 a Strefford, Jonathanu Cancer Sciences, Faculty of Medicine, University of Southampton, Southampton, UK4 aut
7001 a Rosenquist, Richardu Karolinska Institutet,Uppsala universitet,Experimentell och klinisk onkologi,Science for Life Laboratory, SciLifeLab,Richard Rosenquist Brandell4 aut0 (Swepub:uu)richrose
7001 a Damm, Frederiku Department of Hematology, Oncology, and Tumor Immunology, Charité, University Medical Center, Berlin, Germany; German Consortium for Translational Cancer Research (DKTK), Heidelberg, Germany and Berlin Institute of Health (BIH), Berlin, Germany4 aut
7001 a Oakes, CC4 aut
7102 a Uppsala universitetb Experimentell och klinisk onkologi4 org
7730 t Leukemiad : Springer Science and Business Media LLCg 31:7, s. 1547-1554q 31:7<1547-1554x 0887-6924x 1476-5551
8564 u https://europepmc.org/articles/pmc7001738?pdf=render
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-314928
8564 8u https://doi.org/10.1038/leu.2016.359
8564 8u http://kipublications.ki.se/Default.aspx?queryparsed=id:136136922

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