| Texto completo | |
| Autor(es): Mostrar menos - |
de Sousa, Graziella Ribeiro
[1]
;
Lira, Regia Caroline Peixoto
[2, 3]
;
de Almeida Magalhaes, Taciani
[4, 1]
;
da Silva, Keteryne Rodrigues
[1]
;
Nagano, Luis Fernando Peinado
[1]
;
Saggioro, Fabiano Pinto
[5, 6]
;
Baroni, Mirella
[2]
;
Marie, Suely Kazue Nagahashi
[7]
;
Oba-Shinjo, Sueli Mieko
[7]
;
Brandelise, Silvia
[8]
;
de Paula Queiroz, Rosane Gomes
[2]
;
Brassesco, Maria Sol
[9]
;
Scrideli, Carlos Alberto
[1, 2]
;
Tone, Luiz Gonzaga
[1, 2]
;
Valera, Elvis Terci
[2]
Número total de Autores: 15
|
| Afiliação do(s) autor(es): | [1] Ribeirao Preto Med Sch, Dept Genet, 3900 Bandeirantes Ave, BR-14049900 Ribeirao Preto, SP - Brazil
[2] Ribeirao Preto Med Sch, Dept Paediat, 3900 Bandeirantes Ave, BR-14049900 Ribeirao Preto, SP - Brazil
[3] Univ Fed Triangulo Mineiro, Div Gen Pathol, Campus 1, Manuel Terra Sq, BR-38025200 Uberaba, MG - Brazil
[4] Harvard Med Sch, Dept Cell Biol, Boston, MA 02115 - USA
[5] Ribeirao Preto Med Sch, Dept Pathol, 3900 Bandeirantes Ave, BR-14049900 Ribeirao Preto, SP - Brazil
[6] Rede DOr Sao Luiz Hosp, Dept Pathol, Rua Perobas, BR-04321120 Sao Paulo, SP - Brazil
[7] Univ Sao Paulo, Fac Med FMUSP, Dept Neurol, Lab Cellular & Mol Biol, Sao Paulo, SP - Brazil
[8] Boldrini Inst Ctr, Campinas, SP - Brazil
[9] Univ Sao Paulo, Fac Philosophy Sci & Letters Ribeirao Preto, 3900 Bandeirantes Ave, BR-14040901 Ribeirao Preto, SP - Brazil
Número total de Afiliações: 9
|
| Tipo de documento: | Artigo Científico |
| Fonte: | JOURNAL OF MOLECULAR MEDICINE-JMM; v. 99, n. 8, p. 1101-1113, AUG 2021. |
| Citações Web of Science: | 1 |
| Resumo | |
Although ependymoma (EPN) molecular subgroups have been well established by integrated high-throughput platforms, low- and middle-income countries still need low-cost techniques to promptly classify these molecular subtypes. Here, we applied low-cost methods to classify EPNs from a Brazilian cohort with 60 pediatric EPN patients. Fusion transcripts (C11orf95-RELA, YAP1-MAMLD1, and YAP1-FAM118B) were investigated in supratentorial EPN (ST-EPNs) samples through RT-PCR/Sanger sequencing and immunohistochemistry (IHC) for p65/L1CAM. qRT-PCR and IHC were used to evaluate expression profiling of CXorf67, LAMA2, NELL2, and H3K27me3 in posterior fossa EPN (PF-EPNs) samples. In silico analysis was performed using public microarray data to validate the molecular assignment PF-EPNs with LAMA2/NELL2 markers. RELA cases and YAP1-MAMLD1 fusions were identified in nine and four ST-EPNs, respectively. An additional RELA case was identified by IHC. Of note, LAMA2 and NELL2 gene expression and immunoprofiling were less accurate for classifying PF-EPNs, which were confirmed by in silico analysis. Yet, H3K27me3 staining was sufficient to classify PF-EPN subgroups. Our results emphasize the feasibility of a simplified strategy to molecularly classify EPNs in the vast majority of cases (49/60; 81.7%). A coordinated combination of simple methods can be effective to screen pediatric EPN with the available laboratory resources at most low-/mid-income countries, giving support for clinical practice in pediatric EPN. Key messages Low- and middle-income countries need effective low-cost approaches to promptly distinguish between EPN molecular subgroups. RT-PCR plus Sanger sequencing is able to recognize the most common types of RELA and YAP1 fusion transcripts in ST-EPNs. Genetic and protein expressions of LAMA2 and NELL2 are of limited value to accurately stratify PF-EPNs. Immunohistochemical staining for H3K27me3 may be used as a robust method to accurately diagnose PF-EPNs subgroups. A coordinated flow diagram based on these validated low-cost methods is proposed to help clinical-decision making and to reduce costs with NGS assessment outside research protocols. (AU) | |
| Processo FAPESP: | 16/23972-6 - Classificação molecular de ependimomas pediátricos |
| Beneficiário: | Graziella Ribeiro de Sousa |
| Modalidade de apoio: | Bolsas no Brasil - Mestrado |
| Processo FAPESP: | 14/20341-0 - Interação entre alvos terapêuticos emergentes e vias de desenvolvimento associadas à tumorigênese: ênfase em neoplasias da criança e do adolescente |
| Beneficiário: | Luiz Gonzaga Tone |
| Modalidade de apoio: | Auxílio à Pesquisa - Temático |