Histone H3.3 K27M and G34R/W/V changes in different pediatric cerebral neoplasms

• Grant number: 18/20275-8
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: February 01, 2019
• End date: January 31, 2020
• Field of knowledge: Health Sciences - Medicine - Maternal and Child Health
• Principal Investigator: Elvis Terci Valera
• Grantee: Vinicius Fernandes Oliveira
• Host Institution: Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto da USP (HCMRP). Secretaria da Saúde (São Paulo - Estado). Ribeirão Preto , SP, Brazil

Abstract

Tumors of the central nervous system (CNS) are a frequent cause of death in children and adolescents. Recently, changes in epigenetic mechanisms have been implicated in the oncogenesis of high-grade gliomas (HGG) in children. Mutations in histone H3F3A (K27M or G34R/V/W) were related to tumor location and prognosis of pediatric gliomas. Clinically, several preclinical and clinical studies attempt to evaluate the effect of histone-modifying drugs in the treatment of these highly malignant neoplasms. The objective of the present study is to standardize methods to analyses these mutations by PCR; RT-PCR and gene sequencing (SANGER) in a cohort of pediatric brain tumors from patients treated at the clinical hospital of the Faculty of Medicine - Ribeirão Preto - USP in the last 15 years. It is also intended to validate the presence and frequency of these mutations in a cohort of Brazilian patients with HGG, as well as to investigate the presence of these mutations in different tumors other than pediatric HGG.

Scientific publications

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

OLIVEIRA, VINICIUS FERNANDES; DE SOUSA, GRAZIELLA RIBEIRO; DOS SANTOS, ANTONIO CARLOS; SAGGIORO, FABIANO PINTO; MACHADO, HELIO RUBENS; DE OLIVEIRA, RICARDO SANTOS; TONE, LUIZ GONZAGA; VALERA, ELVIS TERCI. EvaluatingH3F3AK27M and G34R/V somatic mutations in a cohort of pediatric brain tumors of different and rare histologies. CHILD'S NERVOUS SYSTEM, v. 37, n. 2, AUG 2020. (18/20275-8)