First Genome-Wide Methylome Study of Pediatric Medulloblastomas in a Brazilian Cohort
Research conducted through a collaboration between GenEstrut/UFPel, the Translational Pediatrics Laboratory at Hospital de Clínicas de Porto Alegre (HCPA), Hospital Santa Marcelina (São Paulo), and OmixLab/UFPel, with support from TUCCA and partnership with Universidad Mayor (Chile), has been published in the international journal Clinical and Translational Oncology.
The research team has just published, in open access, the first study analyzing the methylome of pediatric medulloblastomas using Brazilian samples, representing an important advance for pediatric oncology and epigenomics in the country.
The study used the Illumina Infinium MethylationEPIC v2.0 platform, capable of analyzing more than 850,000 DNA methylation sites across the human genome, allowing the investigation of epigenetic alterations associated with the major molecular subgroups of this tumor.
The results indicate that the analyzed tumors show global methylation patterns similar to those reported in large international studies, while also highlighting the importance of increasing population representation in genomic research. Studies conducted in diverse populations contribute to more accurate interpretation of molecular data and to the advancement of precision medicine.
Collaboration Between Research Centers and Hospitals
The investigation was developed through a collaborative research network involving academic institutions and specialized clinical centers in Brazil and abroad.
In Rio Grande do Sul, researchers from the Hospital de Clínicas de Porto Alegre (HCPA) participated, with contributions from Prof. Mariana B. Michalowski and researcher Ciliana Rechenmacher, who supported the clinical and translational interface of the study.
In Pelotas, researchers from the Structural Genomics Laboratory (GenEstrut/UFPel) and OmixLab/UFPel contributed to the genomic and bioinformatics analyses, including Hadassa G. Ortiz, William B. Domingues, Antônio Duarte Pagano, Frederico Schmitt Kremer, and Vinicius F. Campos, who were responsible for genomic analyses, bioinformatics, and data interpretation.
In São Paulo, researchers from Hospital Santa Marcelina participated, including Sidnei Epelman and Antônio Fernando da Purificação Júnior, who were responsible for establishing and maintaining the clinical patient cohort used in the study, with support from TUCCA (Associação para Crianças e Adolescentes com Câncer).
The research also included international collaboration with scientists from Universidad Mayor (Chile), including Ricardo Fernández-Ramires and Sebastian Morales-Pison, who contributed to the scientific analysis and interpretation of the results.
Advances in Pediatric Oncology
Although exploratory in nature, the study expands current knowledge about the epigenetic mechanisms involved in the development of medulloblastoma and contributes to the development of molecular datasets that better represent population diversity.
By integrating basic research, advanced genomic analysis, and clinical data, the work reinforces the importance of collaborative research networks for advancing pediatric oncology and precision medicine in Brazil.
The publication also highlights the role of cutting-edge biomedical research conducted in southern Brazil, together with its institutional partners, in generating frontier scientific knowledge with impact on national and international biomedical research.
Next Steps
The study originated from the Master’s dissertation in Biotechnology by researcher Hadassa G. Ortiz, developed within the Graduate Program in Biotechnology at UFPel, under the supervision of Prof. Vinicius F. Campos, coordinator of the Structural Genomics Laboratory.
The research is ongoing. The project is now advancing to a new phase through the PhD thesis in Biotechnology of researcher Lais dos Santos Gonçalves, who will continue the study with the complete analysis of the tumor cohort, further expanding the epigenomic characterization of medulloblastoma in Brazilian patients.
In parallel, the project has also established collaboration with the Artificial Intelligence research group at UFPel, coordinated by Prof. Paulo Roberto Ferreira Jr., which is developing a computational platform for molecular tumor classification, integrating genomic and epigenetic data to support diagnostic strategies and precision medicine.
Funding
This study was funded by the National Council for Scientific and Technological Development (CNPq) through the project: “Epigenetic stratification of medulloblastoma: development and implementation of a Latin American protocol” Approved under the CNPq/MCTI/FNDCT Call No. 22/2024 – Knowledge Brazil Program (Process 444940/2024-3), coordinated by Prof. Vinicius Farias Campos.
The research also received support from TUCCA – Associação para Crianças e Adolescentes com Câncer, an organization that plays a key role in supporting pediatric oncology research in Brazil.
The article was published open access in Clinical and Translational Oncology thanks to the transformative agreements established between CAPES and Springer Nature, which allow open access publication for researchers affiliated with Brazilian institutions participating in the CAPES Journal Portal.
Study Information
Article title:
Genome-wide DNA methylation analysis of pediatric medulloblastomas from a Brazilian cohort: an exploratory study
Journal:
Clinical and Translational Oncology
Open access article:
https://doi.org/10.1007/s12094-026-04304-w
Institutions involved:
Laboratório de Genômica Estrutural – GenEstrut/UFPel
Laboratório de Pediatria Translacional, Hospital de Clínicas de Porto Alegre (HCPA)
Faculdade Santa Marcelina, Hospital Santa Marcelina (São Paulo)
Universidad Mayor (Chile)
OmixLab/UFPel
Institutional support:
TUCCA – Associação para Crianças e Adolescentes com Câncer
Authors:
Hadassa G. Ortiz
Ciliana Rechenmacher
William B. Domingues
Antônio Duarte Pagano
Frederico Schmitt Kremer
Antônio Fernando da Purificação Júnior
Sidnei Epelman
Ricardo Fernández-Ramires
Sebastian Morales-Pison
Mariana B. Michalowski
Vinicius F. Campos
Funding:
National Council for Scientific and Technological Development (CNPq)
Project: Epigenetic stratification of medulloblastoma: development and implementation of a Latin American protocol
CNPq/MCTI/FNDCT Call No. 22/2024 – Knowledge Brazil Program
Process: 444940/2024-3
Coordinator: Vinicius Farias Campos
Clinical research support:
TUCCA – Associação para Crianças e Adolescentes com Câncer
Open access publication:
Published under the transformative agreements between the CAPES Journal Portal and Springer Nature.