Pouya Jamshidi, Matthew McCord, C. Horbinski, L. Jennings, Lucas Santana dos Santos, I. Fudyma, M. DeCuypere, K. Yap, P. Rathbun, Nitin R. Wadhwani
{"title":"Methylation Profiling Improves the Care of Pediatric Brain Tumor Patients","authors":"Pouya Jamshidi, Matthew McCord, C. Horbinski, L. Jennings, Lucas Santana dos Santos, I. Fudyma, M. DeCuypere, K. Yap, P. Rathbun, Nitin R. Wadhwani","doi":"10.1097/PCR.0000000000000493","DOIUrl":null,"url":null,"abstract":"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.","PeriodicalId":72144,"journal":{"name":"AJSP: reviews & reports","volume":null,"pages":null},"PeriodicalIF":0.1000,"publicationDate":"2022-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"AJSP: reviews & reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1097/PCR.0000000000000493","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"PATHOLOGY","Score":null,"Total":0}
引用次数: 1
Abstract
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.
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