Methylation Profiling Improves the Care of Pediatric Brain Tumor Patients

Pouya Jamshidi; Matthew McCord; Craig Horbinski; Lawrence Jennings; Lucas Santana Dos Santos; Iga Alicja Fudyma; Michael DeCuypere; Kai Lee Yap; Pamela Rathbun; Nitin Wadhwani

doi:10.1097/PCR.0000000000000493

Methylation Profiling Improves the Care of Pediatric Brain Tumor Patients

Pouya Jamshidi, Matthew McCord, Craig Horbinski, Lawrence Jennings, Lucas Santana Dos Santos, Iga Alicja Fudyma, Michael DeCuypere, Kai Lee Yap, Pamela Rathbun, Nitin Wadhwani^*

^*Corresponding author for this work

Research output: Contribution to journal › Review article › peer-review

1 Scopus citations

Abstract

We describe a pediatric patient with an intra-axial tumor; histopathologic examination of the resected specimen was unable to establish a precise diagnosis. While the initial targeted next-generation sequencing (NGS) panelwas also nondiagnostic, genomic DNA methylation profiling indicated that the tumor was an astroblastoma,MN1-altered. A more comprehensive NGS panel was then run, which confirmed an MN1-BEND2 fusion. This case displays the limitations and pitfalls of a histological and immunohistochemical-based diagnosis in a case of an infrequently encountered pediatric brain tumor. Furthermore, it highlights the growing need for performing DNA methylation, paired with a comprehensive NGS panel, to ensure an accurate diagnosis in modern surgical neuropathology.

Original language	English (US)
Pages (from-to)	E1-E4
Journal	AJSP: Reviews and Reports
Volume	27
Issue number	3
DOIs	https://doi.org/10.1097/PCR.0000000000000493
State	Published - May 1 2022

Keywords

BCOR
CNS tumor
DNA methylation
MN1-altered
astroblastoma

ASJC Scopus subject areas

Pathology and Forensic Medicine

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10.1097/PCR.0000000000000493

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title = "Methylation Profiling Improves the Care of Pediatric Brain Tumor Patients",

abstract = "We describe a pediatric patient with an intra-axial tumor; histopathologic examination of the resected specimen was unable to establish a precise diagnosis. While the initial targeted next-generation sequencing (NGS) panelwas also nondiagnostic, genomic DNA methylation profiling indicated that the tumor was an astroblastoma,MN1-altered. A more comprehensive NGS panel was then run, which confirmed an MN1-BEND2 fusion. This case displays the limitations and pitfalls of a histological and immunohistochemical-based diagnosis in a case of an infrequently encountered pediatric brain tumor. Furthermore, it highlights the growing need for performing DNA methylation, paired with a comprehensive NGS panel, to ensure an accurate diagnosis in modern surgical neuropathology.",

keywords = "BCOR, CNS tumor, DNA methylation, MN1-altered, astroblastoma",

author = "Pouya Jamshidi and Matthew McCord and Craig Horbinski and Lawrence Jennings and {Dos Santos}, {Lucas Santana} and Fudyma, {Iga Alicja} and Michael DeCuypere and Yap, {Kai Lee} and Pamela Rathbun and Nitin Wadhwani",

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doi = "10.1097/PCR.0000000000000493",

language = "English (US)",

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AU - Jamshidi, Pouya

AU - McCord, Matthew

AU - Horbinski, Craig

AU - Jennings, Lawrence

AU - Dos Santos, Lucas Santana

AU - Fudyma, Iga Alicja

AU - DeCuypere, Michael

AU - Yap, Kai Lee

AU - Rathbun, Pamela

AU - Wadhwani, Nitin

PY - 2022/5/1

Y1 - 2022/5/1

N2 - We describe a pediatric patient with an intra-axial tumor; histopathologic examination of the resected specimen was unable to establish a precise diagnosis. While the initial targeted next-generation sequencing (NGS) panelwas also nondiagnostic, genomic DNA methylation profiling indicated that the tumor was an astroblastoma,MN1-altered. A more comprehensive NGS panel was then run, which confirmed an MN1-BEND2 fusion. This case displays the limitations and pitfalls of a histological and immunohistochemical-based diagnosis in a case of an infrequently encountered pediatric brain tumor. Furthermore, it highlights the growing need for performing DNA methylation, paired with a comprehensive NGS panel, to ensure an accurate diagnosis in modern surgical neuropathology.

AB - We describe a pediatric patient with an intra-axial tumor; histopathologic examination of the resected specimen was unable to establish a precise diagnosis. While the initial targeted next-generation sequencing (NGS) panelwas also nondiagnostic, genomic DNA methylation profiling indicated that the tumor was an astroblastoma,MN1-altered. A more comprehensive NGS panel was then run, which confirmed an MN1-BEND2 fusion. This case displays the limitations and pitfalls of a histological and immunohistochemical-based diagnosis in a case of an infrequently encountered pediatric brain tumor. Furthermore, it highlights the growing need for performing DNA methylation, paired with a comprehensive NGS panel, to ensure an accurate diagnosis in modern surgical neuropathology.

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KW - CNS tumor

KW - DNA methylation

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KW - astroblastoma

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Methylation Profiling Improves the Care of Pediatric Brain Tumor Patients

Abstract

Keywords

ASJC Scopus subject areas

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