دورية أكاديمية
أعرض في EDS

Molecular Profiling of a Rare Rosette-Forming Glioneuronal Tumor Arising in the Spinal Cord.

التفاصيل البيبلوغرافية
العنوان: Molecular Profiling of a Rare Rosette-Forming Glioneuronal Tumor Arising in the Spinal Cord.
المؤلفون: Bidinotto LT; Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, SP, Brazil; Barretos School of Health Sciences, Dr. Paulo Prata-FACISB, Barretos, SP, Brazil., Scapulatempo-Neto C; Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, SP, Brazil; Department of Pathology, Barretos Cancer Hospital, Barretos, SP, Brazil., Mackay A; Divisions of Molecular Pathology and Cancer Therapeutics, Institute for Cancer Research, London, Surrey, United Kingdom., de Almeida GC; Department of Pathology, Barretos Cancer Hospital, Barretos, SP, Brazil., Scheithauer BW; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States of America., Berardinelli GN; Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, SP, Brazil., Torrieri R; Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, SP, Brazil., Clara CA; Department of Neurosurgery, Barretos Cancer Hospital, Barretos, SP, Brazil., Feltrin LT; Department of Radiology, Barretos Cancer Hospital, Barretos, SP, Brazil., Viana-Pereira M; Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Braga, Portugal; 3B's-PT Government Associate Laboratory, Braga/Guimarães, Portugal., Varella-Garcia M; University of Colorado Anschutz Medical Campus, Medical Oncology/Department of Medicine, Aurora, Colorado, United States of America., Jones C; Divisions of Molecular Pathology and Cancer Therapeutics, Institute for Cancer Research, London, Surrey, United Kingdom., Reis RM; Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, SP, Brazil; Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Braga, Portugal; 3B's-PT Government Associate Laboratory, Braga/Guimarães, Portugal.
المصدر: PloS one [PLoS One] 2015 Sep 15; Vol. 10 (9), pp. e0137690. Date of Electronic Publication: 2015 Sep 15 (Print Publication: 2015).
نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE
أسماء مطبوعة: Original Publication: San Francisco, CA : Public Library of Science
مواضيع طبية MeSH: Spinal Cord*, Brain Neoplasms/*genetics , Brain Neoplasms/*metabolism, Adult ; Brain Neoplasms/diagnosis ; Brain Neoplasms/pathology ; Chromosome Deletion ; Exome/genetics ; Humans ; Magnetic Resonance Imaging ; Male
مستخلص: Rosette-forming glioneuronal tumor (RGNT) of the IV ventricle is a rare and recently recognized brain tumor entity. It is histologically composed by two distinct features: a glial component, resembling pilocytic astrocytoma, and a component forming neurocytic rosettes and/or perivascular rosettes. Herein, we describe a 33-year-old man with RGNT arising in the spinal cord. Following an immunohistochemistry validation, we further performed an extensive genomic analysis, using array-CGH (aCGH), whole exome and cancer-related hotspot sequencing, in order to better understand its underlying biology. We observed the loss of 1p and gain of 1q, as well as gain of the whole chromosomes 7, 9 and 16. Local amplifications in 9q34.2 and 19p13.3 (encompassing the gene SBNO2) were identified. Moreover, we observed focal gains/losses in several chromosomes. Additionally, on chromosome 7, we identified the presence of the KIAA1549:BRAF gene fusion, which was further validated by RT-PCR and FISH. Across all mutational analyses, we detected and validated the somatic mutations of the genes MLL2, CNNM3, PCDHGC4 and SCN1A. Our comprehensive molecular profiling of this RGNT suggests that MAPK pathway and methylome changes, driven by KIAA1549:BRAF fusion and MLL2 mutation, respectively, could be associated with the development of this rare tumor entity.
References: Neuropathology. 2012 Jun;32(3):301-5. (PMID: 22017246)
Dev Dyn. 2010 Jun;239(6):1789-96. (PMID: 20503374)
PLoS One. 2014;9(7):e101211. (PMID: 24991807)
J Neurooncol. 2014 Apr;117(2):235-42. (PMID: 24532263)
J Neuropathol Exp Neurol. 2014 Jun;73(6):580-4. (PMID: 24806303)
Neuropathology. 2009 Jun;29(3):309-14. (PMID: 18647265)
Nat Rev Neurol. 2011 Aug;7(8):439-50. (PMID: 21727940)
J Neurooncol. 2008 Dec;90(3):301-8. (PMID: 18777116)
J Clin Neurosci. 2012 Aug;19(8):1180-1. (PMID: 22613490)
Brain Tumor Pathol. 2015 Apr;32(2):124-30. (PMID: 24984922)
Neurol Med Chir (Tokyo). 2010;50(3):224-8. (PMID: 20339273)
Mol Cell Biol. 2013 Apr;33(7):1383-93. (PMID: 23358417)
J Clin Neurosci. 2013 Mar;20(3):335-41. (PMID: 23375398)
Nat Protoc. 2008;3(9):1452-6. (PMID: 18772872)
Acta Neuropathol. 2007 Aug;114(2):97-109. (PMID: 17618441)
J Neurooncol. 2012 Oct;110(1):21-5. (PMID: 22814862)
Clin Neuropathol. 2014 Nov-Dec;33(6):407-11. (PMID: 24986181)
Nature. 2012 Aug 2;488(7409):100-5. (PMID: 22832583)
J Pathol. 2009 Jun;218(2):172-81. (PMID: 19373855)
Acta Neuropathol. 2009 Dec;118(6):813-9. (PMID: 19585134)
Nat Genet. 2013 Jun;45(6):602-12. (PMID: 23583981)
Hum Pathol. 2009 Jun;40(6):898-901. (PMID: 19269010)
Quant Imaging Med Surg. 2012 Sep;2(3):227-31. (PMID: 23256084)
Br J Neurosurg. 2012 Oct;26(5):668-73. (PMID: 22512825)
PLoS One. 2011;6(5):e20588. (PMID: 21637783)
J Immunol. 2007 Dec 1;179(11):7215-9. (PMID: 18025162)
Neuropathology. 2011 Dec;31(6):654-7. (PMID: 21518014)
J Neuropathol Exp Neurol. 2015 Jul;74(7):743-54. (PMID: 26083571)
Acta Neuropathol. 2012 Feb;123(2):285-7. (PMID: 21997360)
Childs Nerv Syst. 2013 May;29(5):839-47. (PMID: 23239254)
J Neurooncol. 2011 May;102(3):477-84. (PMID: 20872044)
Elife. 2013;2:e01503. (PMID: 24368734)
Nature. 2012 Aug 2;488(7409):106-10. (PMID: 22820256)
معلومات مُعتمدة: 105104 United Kingdom WT_ Wellcome Trust; P30 CA046934 United States CA NCI NIH HHS
تواريخ الأحداث: Date Created: 20150916 Date Completed: 20160527 Latest Revision: 20220408
رمز التحديث: 20231215
مُعرف محوري في PubMed: PMC4570813
DOI: 10.1371/journal.pone.0137690
PMID: 26371886
قاعدة البيانات: MEDLINE
الوصف
تدمد:1932-6203
DOI:10.1371/journal.pone.0137690