| Full text | |
| 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 Opportunities: | Research Projects - Thematic Grants |
| FAPESP's process: | 12/15128-0 - Alterations in the gene expression of ependymomas |
| Grantee: | Sueli Mieko Oba Shinjo |
| Support Opportunities: | Regular Research Grants |