DNA methylation-based diagnosis confirmation in a pediatric patient with low-grade glioma: a case report

Autor: Daria Morgacheva, Marina Ryzhova, Olga Zheludkova, Margarita Belogurova, Yulia Dinikina
Jazyk: angličtina
Rok vydání: 2023
Předmět:
Zdroj: Frontiers in Pediatrics, Vol 11 (2023)
Druh dokumentu: article
ISSN: 2296-2360
DOI: 10.3389/fped.2023.1256876
Popis: Central nervous system (CNS) tumors in children comprise a highly heterogenous and complex group of diseases. Historically, diagnosis and confirmation of these tumors were routinely based on histological examination. However, recently obtained data demonstrate that such a diagnostic approach is not completely accurate and could lead to misdiagnosis. Also, in recent times, the quantity and quality of molecular diagnostic methods have greatly improved, which influences the current classification methods and treatment approach for pediatric CNS tumors. Nowadays, molecular methods, such as DNA methylation profiling, are an integral part of diagnosing brain and spinal tumors in children. In this paper, we present the case of an infant with a posterior fossa tumor who demonstrated a non-specific morphology and whose diagnosis was verified only after DNA methylation.
Databáze: Directory of Open Access Journals