Case Report: Next generation sequencing identifies a NAB2-STAT6 fusion in Glioblastoma

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• 作者：Phedias Diamandis ; Ruben Ferrer-Luna ; Raymond Y. Huang…
• 关键词：NAB2 ; STAT6 ; Glioblastoma ; Next generation sequencing
• 刊名：Diagnostic Pathology
• 出版年：2016
• 出版时间：December 2016
• 年：2016
• 卷：11
• 期：1
• 全文大小：2,559 KB
• 参考文献：1.Johnson DR, O’Neill BP. Glioblastoma survival in the United States before and during the temozolomide era. J Neurooncol. 2012;107:359–64. doi:10.​1007/​s11060-011-0749-4 .CrossRef PubMed
  2.Hartmann C, Hentschel B, Wick W, Capper D, Felsberg J, Simon M, et al. Patients with IDH1 wild type anaplastic astrocytomas exhibit worse prognosis than IDH1-mutated glioblastomas, and IDH1 mutation status accounts for the unfavorable prognostic effect of higher age: implications for classification of gliomas. Acta Neuropathol. 2010;120:707–18. doi:10.​1007/​s00401-010-0781-z .CrossRef PubMed
  3.Hegi ME, Diserens A-C, Gorlia T, Hamou MF, de Tribolet N, Weller M, et al. MGMT gene silencing and benefit from temozolomide in glioblastoma. N. Engl. J. Med. 2005;352:997–1003. doi:10.​1056/​NEJMoa043331 .CrossRef PubMed
  4.Dias-Santagata D, Lam Q, Vernovsky K, Vena N, Lennerz JK, Borger DR, et al. BRAF V600E mutations are common in pleomorphic xanthoastrocytoma: diagnostic and therapeutic implications. PLoS One 2011;6:e17948. doi:10.​1371/​journal.​pone.​0017948 .PubMedCentral CrossRef PubMed
  5.Cancer Genome Atlas Research Network, Brat DJ, Verhaak RGW, Aldape KD, Yung WK, Salama SR et al. Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas. N Engl J Med. 2015;372:2481–98. doi:10.​1056/​NEJMoa1402121 .CrossRef
  6.Wagle N, Berger MF, Davis MJ, Blumenstiel B, Defelice M, Pochanard P, et al. High-throughput detection of actionable genomic alterations in clinical tumor samples by targeted, massively parallel sequencing. Cancer Discov. 2012;2:82–93. doi:10.​1158/​2159-8290.​CD-11-0184 .PubMedCentral CrossRef PubMed
  7.Ramkissoon SH, Bi WL, Schumacher SE, Ramkissoon LA, Haidar S, Knoff D, et al. Clinical implementation of integrated whole-genome copy number and mutation profiling for glioblastoma. Neuro. Oncol. 2015;17:1344–1355. doi:10.​1093/​neuonc/​nov015 .CrossRef PubMed
  8.Robinson DR, Wu Y-M, Kalyana-Sundaram S, Cao X, Lonigro RJ, Sung YS, et al. Identification of recurrent NAB2-STAT6 gene fusions in solitary fibrous tumor by integrative sequencing. Nat. Genet. 2013;45:180–5. doi:10.​1038/​ng.​2509 .PubMedCentral CrossRef PubMed
  9.Schweizer L, Koelsche C, Sahm F, Piro RM, Capper D, Reuss DE, et al. Meningeal hemangiopericytoma and solitary fibrous tumors carry the NAB2-STAT6 fusion and can be diagnosed by nuclear expression of STAT6 protein. Acta Neuropathol. 2013;125:651–8. doi:10.​1007/​s00401-013-1117-6 .CrossRef PubMed
  10.Cryan JB, Haidar S, Ramkissoon LA, Bi WL, Knoff DS, Schultz N, et al. Clinical multiplexed exome sequencing distinguishes adult oligodendroglial neoplasms from astrocytic and mixed lineage gliomas. Oncotarget 2014;5:8083–92.PubMedCentral CrossRef PubMed
  11.Chmielecki J, Crago AM, Rosenberg M, O’Connor R, Walker SR, Ambrogio L, et al. Whole-exome sequencing identifies a recurrent NAB2-STAT6 fusion in solitary fibrous tumors. Nat. Genet. 2013;45:131–2. doi:10.​1038/​ng.​2522 .PubMedCentral CrossRef PubMed
  12.Frith AE, Hirbe AC, Van Tine BA. Novel pathways and molecular targets for the treatment of sarcoma. Curr Oncol Rep. 2013;15:378–85. doi:10.​1007/​s11912-013-0319-3 .CrossRef PubMed
  13.Brennan CW, Verhaak RGW, McKenna A, Campos B, Noushmehr H, Salama SR, et al. The somatic genomic landscape of glioblastoma. Cell 2013;155:462–77. doi:10.​1016/​j.​cell.​2013.​09.​034 .PubMedCentral CrossRef PubMed
  14.Shah N, Lankerovich M, Lee H, Yoon JG, Schroeder B, Foltz G. Exploration of the gene fusion landscape of glioblastoma using transcriptome sequencing and copy number data. BMC Genomics. 2013;14:818. doi:10.​1186/​1471-2164-14-818 .PubMedCentral CrossRef PubMed
  15.Weaver J, Downs-Kelly E, Goldblum JR, Turner S, Kulkarni S, Tubbs RR, Rubin BP, Skacel M. Fluorescence in situ hybridization for MDM2 gene amplification as a diagnostic tool in lipomatous neoplasms. Mod Pathol. 2008;21(8):943-9. doi:10.​1038/​modpathol.​2008 .CrossRef PubMed
  
• 作者单位：Phedias Diamandis (1) (2)
  Ruben Ferrer-Luna (3) (4)
  Raymond Y. Huang (5)
  Rebecca D. Folkerth (2) (6) (7)
  Azra H. Ligon (2) (6)
  Patrick Y. Wen (8)
  Rameen Beroukhim (3) (4)
  Keith L. Ligon (2) (3) (6) (7) (8)
  Shakti H. Ramkissoon (2) (6) (7) (8)
  
  1. Neuropathology Program, Department of Laboratory Medicine and Pathobiology, University of Toronto, 27 King’s College Circle, Toronto, ON, M5S, Canada
  2. Department of Pathology, Brigham and Women’s Hospital, 75 Francis Street, Boston, MA, 02115, USA
  3. Cancer Program, Broad Institute of MIT and Harvard, 415 Main St, Cambridge, MA, 02142, USA
  4. Department of Cancer Biology, Dana-Farber Cancer Institute, 450 Brookline Avenue, Boston, MA, 02115, USA
  5. Department of Radiology, Brigham and Women’s Hospital, 75 Francis Street, Boston, MA, 02115, USA
  6. Department of Pathology, Harvard Medical School, 25 Shattuck Street, Boston, MA, 02115, USA
  7. Department of Pathology, Boston Children’s Hospital, 300 Longwood Avenue, Boston, MA, 02115, USA
  8. Department of Medical Oncology, Dana-Farber Cancer Institute, 450 Brookline Avenue, Boston, MA, 02115, USA
  
• 刊物主题：Pathology;
• 出版者：BioMed Central
• ISSN：1746-1596

文摘

Background Molecular profiling has uncovered genetic subtypes of glioblastoma (GBM), including tumors with IDH1 mutations that confer increase survival and improved response to standard-of-care therapies.  By mapping the genetic landscape of brain tumors in routine clinical practice, we enable rapid identification of targetable genetic alterations.