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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

A novel type of C11orf95-LOC-RELA fusion in a grade II supratentorial ependymoma: report of a case with literature review

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Author(s):
de Sousa, Graziella Ribeiro [1] ; Nagahashi Marie, Suely Kazue [2] ; Oba-Shinjo, Sueli Mieko [2] ; Zambelli Ramalho, Leandra Naira [3] ; Tone, Luiz Gonzaga [4, 1] ; Valera, Elvis Terci [4]
Total Authors: 6
Affiliation:
[1] Univ Sao Paulo, Ribeirao Preto Med Sch, Dept Genet, Ribeirao Preto, SP - Brazil
[2] Univ Sao Paulo, Sao Paulo Med Sch, Dept Neurol, Lab Cellular & Mol Biol, Sao Paulo, SP - Brazil
[3] Univ Sao Paulo, Ribeirao Preto Med Sch, Dept Pathol, Ribeirao Preto, SP - Brazil
[4] Univ Sao Paulo, Ribeirao Preto Med Sch, Dept Pediat, Ribeirao Preto, SP - Brazil
Total Affiliations: 4
Document type: Review article
Source: CHILD'S NERVOUS SYSTEM; v. 35, n. 4, p. 689-694, APR 2019.
Web of Science Citations: 0
Abstract

Background Ependymoma (EPN) is the third most common central nervous system tumor in childhood. Recent advances in the molecular classification of EPN revealed a supratentorial (ST) ependymoma subgroup characterized by C11orf95-RELA fusion. Case Report We describe a novel RELA-fusion composed by a chimeric transcript C11orf95-LOC-RELA in a supratentorial WHO grade II EPN occurring in a 4-year-old child. Metastatic loci at the brain, leptomeningeal involvement, and pulmonary nodules were identified at tumor recurrence. The child eventually died before 1 year after recurrence. Conclusion This index case showed aggressive behavior and nuclear accumulation of p65/RELA. (AU)

FAPESP's process: 14/20341-0 - Interactions between emerging therapeutic targets and developmental pathways associated with tumorigenesis: emphasis on pediatric malignancies
Grantee:Luiz Gonzaga Tone
Support type: Research Projects - Thematic Grants
FAPESP's process: 12/15128-0 - Alterations in the gene expression of ependymomas
Grantee:Sueli Mieko Oba Shinjo
Support type: Regular Research Grants