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Methylation Profiling Improves the Care of Pediatric Brain Tumor Patients

Year: 2022

Type: article

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) panel was 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.

Source: AJSP Review and Reports

DOI: 10.1097/pcr.0000000000000493

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

Institutions: Northwestern University, Midwestern University, Lurie Children's Hospital

Language: English

Topic: Glioma Diagnosis and Treatment

Subfield: Genetics

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

OpenAlex ID: W4293100302

FWCI: 0.128

Cites: 10

Cited by: 1

Related to: 10