دورية أكاديمية
Relapsed neuroblastomas show frequent RAS-MAPK pathway mutations.
| العنوان: | Relapsed neuroblastomas show frequent RAS-MAPK pathway mutations. |
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| المؤلفون: | Eleveld TF; Department of Oncogenomics, Academic Medical Center of the University of Amsterdam, Amsterdam, the Netherlands., Oldridge DA; 1] Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA. [2] Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA. [3] Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Bernard V; ICGEX Platform, Institut Curie, Paris, France., Koster J; Department of Oncogenomics, Academic Medical Center of the University of Amsterdam, Amsterdam, the Netherlands., Colmet Daage L; 1] ICGEX Platform, Institut Curie, Paris, France. [2] Laboratory RTOP (Recherche Translationelle en Oncologie Pédiatrique), Transfer Department, Institut Curie, Paris, France., Diskin SJ; 1] Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA. [2] Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA. [3] Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Schild L; Department of Oncogenomics, Academic Medical Center of the University of Amsterdam, Amsterdam, the Netherlands., Bentahar NB; ICGEX Platform, Institut Curie, Paris, France., Bellini A; Laboratory RTOP (Recherche Translationelle en Oncologie Pédiatrique), Transfer Department, Institut Curie, Paris, France., Chicard M; Laboratory RTOP (Recherche Translationelle en Oncologie Pédiatrique), Transfer Department, Institut Curie, Paris, France., Lapouble E; Unité de Génétique Somatique, Institut Curie, Paris, France., Combaret V; Centre Léon-Bérard, Laboratoire de Recherche Translationnelle Lyon, Lyon, France., Legoix-Né P; ICGEX Platform, Institut Curie, Paris, France., Michon J; Département de Pédiatrie, Institut Curie, Paris, France., Pugh TJ; Princess Margaret Cancer Centre, University Health Network; Department of Medical Biophysics, University of Toronto, Toronto, Ontario, Canada., Hart LS; 1] Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA. [2] Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Rader J; 1] Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA. [2] Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Attiyeh EF; 1] Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA. [2] Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA. [3] Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Wei JS; Pediatric Oncology Branch, Oncogenomics Section, Center for Cancer Research, US National Institutes of Health, Gaithersburg, Maryland, USA., Zhang S; Pediatric Oncology Branch, Oncogenomics Section, Center for Cancer Research, US National Institutes of Health, Gaithersburg, Maryland, USA., Naranjo A; Department of Biostatistics, University of Florida, Children's Oncology Group (COG), Gainesville, Florida, USA., Gastier-Foster JM; 1] The Ohio State University College of Medicine, Columbus, Ohio, USA. [2] Biopathology Center, Nationwide Children's Hospital, Columbus, Ohio, USA., Hogarty MD; 1] Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA. [2] Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA. [3] Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Asgharzadeh S; 1] Division of Hematology/Oncology, Children's Hospital Los Angeles, Los Angeles, California, USA. [2] Saban Research Institute, Children's Hospital Los Angeles, Los Angeles, California, USA. [3] Keck School of Medicine, University of Southern California, Los Angeles, California, USA., Smith MA; Cancer Therapy Evaluation Program, National Cancer Institute, Bethesda, Maryland, USA., Guidry Auvil JM; Office of Cancer Genomics, National Cancer Institute, Bethesda, Maryland, USA., Watkins TB; Translational Cancer Therapeutics Laboratory, Cancer Research UK, London, UK., Zwijnenburg DA; Department of Oncogenomics, Academic Medical Center of the University of Amsterdam, Amsterdam, the Netherlands., Ebus ME; Department of Oncogenomics, Academic Medical Center of the University of Amsterdam, Amsterdam, the Netherlands., van Sluis P; Department of Oncogenomics, Academic Medical Center of the University of Amsterdam, Amsterdam, the Netherlands., Hakkert A; Department of Oncogenomics, Academic Medical Center of the University of Amsterdam, Amsterdam, the Netherlands., van Wezel E; 1] Department of Experimental Immunohematology, Sanquin Research, Amsterdam, the Netherlands. [2] Landsteiner Laboratory, Academic Medical Center of the University of Amsterdam, Amsterdam, the Netherlands., van der Schoot CE; 1] Department of Experimental Immunohematology, Sanquin Research, Amsterdam, the Netherlands. [2] Landsteiner Laboratory, Academic Medical Center of the University of Amsterdam, Amsterdam, the Netherlands., Westerhout EM; Department of Oncogenomics, Academic Medical Center of the University of Amsterdam, Amsterdam, the Netherlands., Schulte JH; 1] Department of Pediatric Oncology and Hematology, Charité University Medicine, Berlin, Germany. [2] German Consortium for Translational Cancer Research (DKTK), Heidelberg, Germany. [3] Department of Pediatric Oncology and Hematology, University Children's Hospital Essen, Essen, Germany. [4] Translational Neuro-Oncology, West German Cancer Center (WTZ), University Hospital Essen, Essen, Germany., Tytgat GA; Department of Pediatric Oncology, Emma Children's Hospital, Academic Medical Center of the University of Amsterdam, Amsterdam, the Netherlands., Dolman ME; Department of Oncogenomics, Academic Medical Center of the University of Amsterdam, Amsterdam, the Netherlands., Janoueix-Lerosey I; INSERM U830, Laboratoire de Génétique et Biologie des Cancers, Institut Curie, Paris, France., Gerhard DS; Biopathology Center, Nationwide Children's Hospital, Columbus, Ohio, USA., Caron HN; Department of Pediatric Oncology, Emma Children's Hospital, Academic Medical Center of the University of Amsterdam, Amsterdam, the Netherlands., Delattre O; INSERM U830, Laboratoire de Génétique et Biologie des Cancers, Institut Curie, Paris, France., Khan J; Pediatric Oncology Branch, Oncogenomics Section, Center for Cancer Research, US National Institutes of Health, Gaithersburg, Maryland, USA., Versteeg R; Department of Oncogenomics, Academic Medical Center of the University of Amsterdam, Amsterdam, the Netherlands., Schleiermacher G; 1] Laboratory RTOP (Recherche Translationelle en Oncologie Pédiatrique), Transfer Department, Institut Curie, Paris, France. [2] Département de Pédiatrie, Institut Curie, Paris, France. [3] INSERM U830, Laboratoire de Génétique et Biologie des Cancers, Institut Curie, Paris, France., Molenaar JJ; Department of Oncogenomics, Academic Medical Center of the University of Amsterdam, Amsterdam, the Netherlands., Maris JM; 1] Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA. [2] Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA. [3] Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA. |
| المصدر: | Nature genetics [Nat Genet] 2015 Aug; Vol. 47 (8), pp. 864-71. Date of Electronic Publication: 2015 Jun 29. |
| نوع المنشور: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: New York, NY : Nature Pub. Co., c1992- |
| مواضيع طبية MeSH: | Mutation*, MAP Kinase Signaling System/*genetics , Mitogen-Activated Protein Kinases/*genetics , Neoplasm Recurrence, Local/*genetics , Neuroblastoma/*genetics , ras Proteins/*genetics, Anaplastic Lymphoma Kinase ; Animals ; Benzimidazoles/pharmacology ; Blotting, Western ; Cell Line, Tumor ; Child ; Child, Preschool ; Chromosome Aberrations ; Cyclin-Dependent Kinase Inhibitor p16/genetics ; Cyclin-Dependent Kinase Inhibitor p16/metabolism ; Female ; Gene Expression Regulation, Neoplastic ; HEK293 Cells ; Humans ; Infant ; Male ; Mice, SCID ; Mitogen-Activated Protein Kinases/metabolism ; Neuroblastoma/drug therapy ; Neuroblastoma/pathology ; Phosphorylation/drug effects ; Receptor Protein-Tyrosine Kinases/genetics ; Receptor Protein-Tyrosine Kinases/metabolism ; Reverse Transcriptase Polymerase Chain Reaction ; Xenograft Model Antitumor Assays ; ras Proteins/metabolism |
| مستخلص: | The majority of patients with neuroblastoma have tumors that initially respond to chemotherapy, but a large proportion will experience therapy-resistant relapses. The molecular basis of this aggressive phenotype is unknown. Whole-genome sequencing of 23 paired diagnostic and relapse neuroblastomas showed clonal evolution from the diagnostic tumor, with a median of 29 somatic mutations unique to the relapse sample. Eighteen of the 23 relapse tumors (78%) showed mutations predicted to activate the RAS-MAPK pathway. Seven of these events were detected only in the relapse tumor, whereas the others showed clonal enrichment. In neuroblastoma cell lines, we also detected a high frequency of activating mutations in the RAS-MAPK pathway (11/18; 61%), and these lesions predicted sensitivity to MEK inhibition in vitro and in vivo. Our findings provide a rationale for genetic characterization of relapse neuroblastomas and show that RAS-MAPK pathway mutations may function as a biomarker for new therapeutic approaches to refractory disease. |
| References: | Nat Rev Cancer. 2004 Mar;4(3):177-83. (PMID: 14993899) N Engl J Med. 1985 Oct 31;313(18):1111-6. (PMID: 4047115) N Engl J Med. 1996 Jan 25;334(4):225-30. (PMID: 8531999) N Engl J Med. 1999 Jun 24;340(25):1954-61. (PMID: 10379019) N Engl J Med. 2005 Nov 24;353(21):2243-53. (PMID: 16306521) Am J Hum Genet. 2006 Feb;78(2):279-90. (PMID: 16358218) J Clin Oncol. 2008 Mar 20;26(9):1504-10. (PMID: 18349403) Nature. 2008 Oct 16;455(7215):975-8. (PMID: 18923525) Q J Nucl Med Mol Imaging. 2008 Dec;52(4):403-18. (PMID: 19088694) J Clin Oncol. 2009 Jan 10;27(2):289-97. (PMID: 19047291) Nat Biotechnol. 2009 Feb;27(2):182-9. (PMID: 19182786) Bioinformatics. 2009 Jul 15;25(14):1754-60. (PMID: 19451168) Genome Res. 2009 Sep;19(9):1639-45. (PMID: 19541911) Science. 2010 Jan 1;327(5961):78-81. (PMID: 19892942) Clin Cancer Res. 2010 Feb 15;16(4):1108-18. (PMID: 20145180) N Engl J Med. 2010 Jun 10;362(23):2202-11. (PMID: 20558371) J Clin Oncol. 2010 Jul 1;28(19):3122-30. (PMID: 20516441) Cell. 2010 Jul 23;142(2):218-29. (PMID: 20655465) Genome Res. 2010 Sep;20(9):1297-303. (PMID: 20644199) Nucleic Acids Res. 2010 Sep;38(16):e164. (PMID: 20601685) Pediatr Blood Cancer. 2011 Apr;56(4):578-83. (PMID: 21298742) Genome Biol. 2010;11(11):R112. (PMID: 21092299) JAMA. 2012 Mar 14;307(10):1062-71. (PMID: 22416102) Eur J Cancer. 2012 Mar;48(5):763-71. (PMID: 22088485) Nature. 2012 Mar 29;483(7391):589-93. (PMID: 22367537) Nature. 2012 Mar 29;483(7391):570-5. (PMID: 22460902) Nat Biotechnol. 2012 May;30(5):413-21. (PMID: 22544022) Cancer Cell. 2012 Jul 10;22(1):117-30. (PMID: 22789543) Bioinformatics. 2012 Sep 15;28(18):i333-i339. (PMID: 22962449) Nature. 2012 Nov 1;491(7422):56-65. (PMID: 23128226) Nat Genet. 2013 Jan;45(1):12-7. (PMID: 23202128) Cell. 2013 Feb 14;152(4):714-26. (PMID: 23415222) Nat Genet. 2013 Mar;45(3):279-84. (PMID: 23334666) Nat Biotechnol. 2013 Mar;31(3):213-9. (PMID: 23396013) Lancet Oncol. 2013 May;14(6):472-80. (PMID: 23598171) Nat Methods. 2014 Apr;11(4):396-8. (PMID: 24633410) J Clin Oncol. 2014 Sep 1;32(25):2727-34. (PMID: 25071110) Oncotarget. 2014 Sep 30;5(18):8737-49. (PMID: 25228590) Nat Commun. 2014;5:5694. (PMID: 25452114) Ann Oncol. 2015 Jan;26(1):64-70. (PMID: 25319062) Cancer Cell. 2014 Nov 10;26(5):682-94. (PMID: 25517749) Pediatr Blood Cancer. 2013 Jun;60(6):985-93. (PMID: 23255319) |
| معلومات مُعتمدة: | CA98543 United States CA NCI NIH HHS; HHSN261200800001C United States CA NCI NIH HHS; RC1MD004418 United States MD NIMHD NIH HHS; U10 CA098543 United States CA NCI NIH HHS; U10 CA180886 United States CA NCI NIH HHS; HHSN261200800001E United States CA NCI NIH HHS; HHSN261200800001E United States CA NCI NIH HHS; F30 CA192831 United States CA NCI NIH HHS; RC1 MD004418 United States MD NIMHD NIH HHS; U10 CA098413 United States CA NCI NIH HHS; CA98413 United States CA NCI NIH HHS; T32 HG000046 United States HG NHGRI NIH HHS |
| المشرفين على المادة: | 0 (Benzimidazoles) 0 (Cyclin-Dependent Kinase Inhibitor p16) 181R97MR71 (binimetinib) EC 2.7.10.1 (Anaplastic Lymphoma Kinase) EC 2.7.10.1 (Receptor Protein-Tyrosine Kinases) EC 2.7.11.24 (Mitogen-Activated Protein Kinases) EC 3.6.5.2 (ras Proteins) |
| تواريخ الأحداث: | Date Created: 20150630 Date Completed: 20151026 Latest Revision: 20240615 |
| رمز التحديث: | 20240615 |
| مُعرف محوري في PubMed: | PMC4775079 |
| DOI: | 10.1038/ng.3333 |
| PMID: | 26121087 |
| قاعدة البيانات: | MEDLINE |
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Full Text Finder | تدمد: | 1546-1718 |
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| DOI: | 10.1038/ng.3333 |