Version 1
: Received: 28 July 2024 / Approved: 29 July 2024 / Online: 29 July 2024 (13:09:49 CEST)
How to cite:
Wolff, B. M.; Casal, Y. R.; Vieira, L. L.; Carvalho, G. F. D. S.; Costa, M. R.; da Silva, R. M.; Chagas, M. F. F.; Rolim, L. S.; Oliveira, Y. G.; Moura, E. A.; Costa, F. D.; Kulikowski, L. D. Implementation of Methylation Profiling of Central Nervous System Tumors At Largest Public Health Center in Brazil. Preprints2024, 2024072300. https://doi.org/10.20944/preprints202407.2300.v1
Wolff, B. M.; Casal, Y. R.; Vieira, L. L.; Carvalho, G. F. D. S.; Costa, M. R.; da Silva, R. M.; Chagas, M. F. F.; Rolim, L. S.; Oliveira, Y. G.; Moura, E. A.; Costa, F. D.; Kulikowski, L. D. Implementation of Methylation Profiling of Central Nervous System Tumors At Largest Public Health Center in Brazil. Preprints 2024, 2024072300. https://doi.org/10.20944/preprints202407.2300.v1
Wolff, B. M.; Casal, Y. R.; Vieira, L. L.; Carvalho, G. F. D. S.; Costa, M. R.; da Silva, R. M.; Chagas, M. F. F.; Rolim, L. S.; Oliveira, Y. G.; Moura, E. A.; Costa, F. D.; Kulikowski, L. D. Implementation of Methylation Profiling of Central Nervous System Tumors At Largest Public Health Center in Brazil. Preprints2024, 2024072300. https://doi.org/10.20944/preprints202407.2300.v1
APA Style
Wolff, B. M., Casal, Y. R., Vieira, L. L., Carvalho, G. F. D. S., Costa, M. R., da Silva, R. M., Chagas, M. F. F., Rolim, L. S., Oliveira, Y. G., Moura, E. A., Costa, F. D., & Kulikowski, L. D. (2024). Implementation of Methylation Profiling of Central Nervous System Tumors At Largest Public Health Center in Brazil. Preprints. https://doi.org/10.20944/preprints202407.2300.v1
Chicago/Turabian Style
Wolff, B. M., Felipe D'Almeida Costa and Leslie Domenici Kulikowski. 2024 "Implementation of Methylation Profiling of Central Nervous System Tumors At Largest Public Health Center in Brazil" Preprints. https://doi.org/10.20944/preprints202407.2300.v1
Abstract
Tumor entities of the Central Nervous System (CNS) are defined by the WHO
classification and range from benign neoplasms to highly malignant tumors, making
histopathological classification challenging. This diverse spectrum complicates clinical
decision-making and the interpretation and validation of clinical trial results. The
methodology based on DNA methylation profiling of CNS tumors offers greater
diagnostic precision compared to traditional morphological methods. In this study, we
analyzed 16 DNA samples from medulloblastomas and ependymomas, obtained from
paraffin-embedded blocks from the Pathology Division archives of HCFMUSP, and with
prior histological analysis. The samples were processed using the Infinium
MethylationEPIC BeadChip (Illumina®) and methylation data analysis tools in R Studio.
The data were submitted to the MolecularNeuropathology.org platform for methylation
based classification and CNV chart generation. The classifier was consistent with the
previous diagnosis in all cases, refining the diagnosis in 54% of cases to subclass, 38%
to subtype, and 8% to family. The platform also provided CNV estimates for 87% of
cases, revealing crucial information on genetic alterations such as gains, losses,
amplifications, and gene fusions. Despite the challenges of implementation within the
Brazilian Public Health System (SUS), the results demonstrate the method's robustness
and reproducibility, promising invaluable support for precise diagnoses and the
development of more effective therapeutic strategies.
Medicine and Pharmacology, Oncology and Oncogenics
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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