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

被引:0
|
作者
Morgacheva, Daria [1 ]
Ryzhova, Marina [2 ]
Zheludkova, Olga [3 ]
Belogurova, Margarita [1 ]
Dinikina, Yulia [1 ]
机构
[1] Almazov Natl Med Res Ctr, St Petersburg, Russia
[2] NN Burdenko Inst Neurosurg, Moscow, Russia
[3] VF Voino Yasenetskiy Sci & Pract Ctr Specialized H, Moscow, Russia
来源
FRONTIERS IN PEDIATRICS | 2023年 / 11卷
关键词
children; pediatric oncology; CNS tumors; pilocytic astrocytoma; DNA methylation; Sanger sequencing; molecular diagnostics; CENTRAL-NERVOUS-SYSTEM; CLASSIFICATION;
D O I
10.3389/fped.2023.1256876
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
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.
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页数:11
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