Role of DNA Methylation Profile in Diagnosing Astroblastoma

A Case Report and Literature Review

Research output: Contribution to journalArticle

Abstract

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 (MN1) rearrangements, has been identified; they were termed "CNS high-grade neuroepithelial tumors with MN1 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.

Original languageEnglish
Pages (from-to)391
JournalFrontiers in Genetics
Volume10
DOIs
Publication statusPublished - 2019

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Neuroepithelial Neoplasms
DNA Fingerprinting
DNA Methylation
Meningioma
Central Nervous System Neoplasms
Central Nervous System
Gene Rearrangement
Genes
Seizures
Age Groups
Neoplasms

Cite this

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title = "Role of DNA Methylation Profile in Diagnosing Astroblastoma: A Case Report and Literature Review",
abstract = "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 (MN1) rearrangements, has been identified; they were termed {"}CNS high-grade neuroepithelial tumors with MN1 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.",
author = "Giuseppe Petruzzellis and Iside Alessi and Colafati, {Giovanna Stefania} and Francesca Diomedi-Camassei and Andrea Ciolfi and Lucia Pedace and Antonella Cacchione and Andrea Carai and Marco Tartaglia and Angela Mastronuzzi and Evelina Miele",
year = "2019",
doi = "10.3389/fgene.2019.00391",
language = "English",
volume = "10",
pages = "391",
journal = "Frontiers in Genetics",
issn = "1664-8021",
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T1 - Role of DNA Methylation Profile in Diagnosing Astroblastoma

T2 - A Case Report and Literature Review

AU - Petruzzellis, Giuseppe

AU - Alessi, Iside

AU - Colafati, Giovanna Stefania

AU - Diomedi-Camassei, Francesca

AU - Ciolfi, Andrea

AU - Pedace, Lucia

AU - Cacchione, Antonella

AU - Carai, Andrea

AU - Tartaglia, Marco

AU - Mastronuzzi, Angela

AU - Miele, Evelina

PY - 2019

Y1 - 2019

N2 - 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 (MN1) rearrangements, has been identified; they were termed "CNS high-grade neuroepithelial tumors with MN1 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.

AB - 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 (MN1) rearrangements, has been identified; they were termed "CNS high-grade neuroepithelial tumors with MN1 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.

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DO - 10.3389/fgene.2019.00391

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SP - 391

JO - Frontiers in Genetics

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SN - 1664-8021

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