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PLoS One. 2015 Sep 15;10(9):e0137690. doi: 10.1371/journal.pone.0137690. eCollection 2015.

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

Author information

1
Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, SP, Brazil; Barretos School of Health Sciences, Dr. Paulo Prata-FACISB, Barretos, SP, Brazil.
2
Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, SP, Brazil; Department of Pathology, Barretos Cancer Hospital, Barretos, SP, Brazil.
3
Divisions of Molecular Pathology and Cancer Therapeutics, Institute for Cancer Research, London, Surrey, United Kingdom.
4
Department of Pathology, Barretos Cancer Hospital, Barretos, SP, Brazil.
5
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States of America.
6
Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, SP, Brazil.
7
Department of Neurosurgery, Barretos Cancer Hospital, Barretos, SP, Brazil.
8
Department of Radiology, Barretos Cancer Hospital, Barretos, SP, Brazil.
9
Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Braga, Portugal; 3B's-PT Government Associate Laboratory, Braga/GuimarĂ£es, Portugal.
10
University of Colorado Anschutz Medical Campus, Medical Oncology/Department of Medicine, Aurora, Colorado, United States of America.
11
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/GuimarĂ£es, Portugal.

Abstract

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.

PMID:
26371886
PMCID:
PMC4570813
DOI:
10.1371/journal.pone.0137690
[Indexed for MEDLINE]
Free PMC Article

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