DNA Methylation Profile in Pediatric Patients With Germ Cell Tumors

• Grant number: 24/06768-2
• Support Opportunities: Scholarships in Brazil - Master
• Start date: February 01, 2025
• End date: February 28, 2026
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Mariana Tomazini Pinto
• Grantee: Tainá Miotto de Souza
• Host Institution: Hospital do Câncer de Barretos. Fundação Pio XII (FP). Barretos , SP, Brazil
• Associated research grant: 19/07502-8 - Investigation of the transcription factors inducing Epithelial-Mesenchymal Transition (EMT) in germ cells tumors, AP.JP

Abstract

Cancer is one of the leading causes of death, particularly among children, adolescents, and young adults, with germ cell tumors (GCTs) being common in this group. Despite the good cure rate, the incidence of GCTs is increasing, accounting for around 10% of diagnoses in adolescents. These tumors arise from totipotent germ cells and can manifest in various regions of the body, including the gonads and extragonadal tissues. The diagnosis of these tumors involves imaging tests and tumor markers such as ¿-hCG and alpha-fetoprotein. The Barretos Cancer Hospital is a reference center for the treatment of these tumors and is the author of treatment protocols. The clinical and histological characteristics of GCTs influence the diagnosis, while genetic and epigenetic alterations, such as DNA methylation, play an important role in their development and progression, influencing treatment sensitivity. Studies continue to investigate these mechanisms to develop new therapeutic approaches and biomarkers for better management of these tumors. This research opens doors to studying the methylation profile of pediatric GCTs, with the aim of improving treatment, quality of life, and overall survival of patients, as well as contributing to the creation of a robust database for future research. Methylation analysis will be conducted on 45 patients treated at the Barretos Cancer Hospital. Sociodemographic data will be collected from electronic medical records, and the methylation profile will be assessed using the Illumina Methylation Infinium MethylationEPIC v2.0 Kit. The methylation data will be analyzed using the minfi package, and statistical analyses will be carried out using RStudio.