AUTHOR=Petruzzellis Giuseppe , Alessi Iside , Colafati Giovanna Stefania , Diomedi-Camassei Francesca , Ciolfi Andrea , Pedace Lucia , Cacchione Antonella , Carai Andrea , Tartaglia Marco , Mastronuzzi Angela , Miele Evelina 

TITLE=Role of DNA Methylation Profile in Diagnosing Astroblastoma: A Case Report and Literature Review

JOURNAL=Frontiers in Genetics

VOLUME=10

YEAR=2019

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2019.00391

DOI=10.3389/fgene.2019.00391

ISSN=1664-8021

ABSTRACT=<p>Astroblastoma is a rare tumor of the central nervous system (CNS) with uncertain clinical behavior. Recently, DNA methylation profiling has been shown to provide a highly robust and reproducible approach for the classification of all CNS tumors across different age groups. By using DNA methylation profiling, a subset of CNS high-grade tumors with astroblastoma-like morphology characterized by the meningioma 1 gene (<italic>MN1</italic>) rearrangements, has been identified; they were termed “CNS high-grade neuroepithelial tumors with <italic>MN1</italic> alteration” (CNS-HGNET-MN1). Here, we describe a case of CNS-HGNET-MN1 diagnosed by DNA methylation profiling, using Illumina Infinium HumanMethylationEPIC BeadChip (EPIC), that offers the opportunity to conduct a brief literature review. The patient presented with an episode of partial seizures involving the right hemisoma. A gross total resection was performed. No other treatment was proposed in light of the histological and molecular findings. After 21 months, the patient is disease-free in good clinical conditions. Also in view of this case, we recommend DNA-methylation profiling as an important tool for diagnosis and more effective patient stratification and management.</p>