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Are Dinucleotide Alterations Definitional for Myxoid Glioneuronal Tumor? Report of p. K385L Mutation in a Neonatal High-Grade Glioma.
Pediatr Dev Pathol
December 2024
Department of Pathology, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Tumors are increasingly defined by molecular alterations but approach to cases with discordant histologic and molecular features is unclear. Myxoid glioneuronal tumor (MGNT), histologically similar to dysembryoplastic neuroepithelial tumor (DNET), is characterized by dinucleotide mutations in gene (K385L or K385I). Here, we report K385L mutation in a neonatal high-grade glioma.
View Article and Find Full Text PDFDisruption of the epigenetic landscape is of particular interest in acute myeloid leukemia (AML) due to its relatively low mutational burden and frequent occurrence of mutations in epigenetic regulators. Here, we applied an information-theoretic analysis of methylation potential energy landscapes, capturing changes in mean methylation level and methylation entropy, to comprehensively analyze DNA methylation stochasticity in subtypes of AML defined by mutually exclusive genetic mutations. We identified AML subtypes with CEBPA double mutation and those with IDH mutations as distinctly high-entropy subtypes, marked by methylation disruption over a convergent set of genes.
View Article and Find Full Text PDFClinical and imaging characteristics of supratentorial glioma with IDH2 mutation.
Neuroradiology
June 2024
Department of Diagnostic Imaging and Nuclear Medicine, Kyoto University Graduate School of Medicine, 54 Shogoin Kawahara-Cho, Sakyo-Ku, Kyoto, 606-8507, Japan.
Purpose: The rarity of IDH2 mutations in supratentorial gliomas has led to gaps in understanding their radiological characteristics, potentially resulting in misdiagnosis based solely on negative IDH1 immunohistochemical staining. We aimed to investigate the clinical and imaging characteristics of IDH2-mutant gliomas.
Methods: We analyzed imaging data from adult patients with pathologically confirmed diffuse lower-grade gliomas and known IDH1/2 alteration and 1p/19q codeletion statuses obtained from the records of our institute (January 2011 to August 2022, Cohort 1) and The Cancer Imaging Archive (TCIA, Cohort 2).
Patterns of T2-FLAIR discordance across a cohort of adult-type diffuse gliomas and deviations from the classic T2-FLAIR mismatch sign.
Neuroradiology
April 2024
Division of Neuroradiology, Department of Medical Imaging, St. Michael's Hospital, University of Toronto, 30 Bond St., Toronto, ON, M5B 1W8, Canada.
Purpose: T2-FLAIR mismatch serves as a highly specific but insensitive marker for IDH-mutant (IDHm) astrocytoma with potential limitations in real-world application. We aimed to assess the utility of a broader definition of T2-FLAIR discordance across a cohort of adult-type diffuse lower-grade gliomas (LrGG) to see if specific patterns emerge and additionally examine factors determining deviation from the classic T2-FLAIR mismatch sign.
Methods: Preoperative MRIs of non-enhancing adult-type diffuse LrGGs were reviewed.
Droplet digital PCR (ddPCR) using FFPE DNA to assess methylation status of gene among patients with mutant astrocytoma and wild-type glioblastoma.
J Clin Pathol
December 2023
Pathology, Christian Medical College and Hospital Vellore, Vellore, Tamil Nadu, India
promoter methylation analysis in formalin-fixed paraffin-embedded (FFPE) tissues can be challenging since the DNA obtained is often fragmented. Bisulfite conversion, which is essential to determine methylation status, further degrades DNA. While conventional methylation-specific PCR (MSP) and pyrosequencing assays have long been used to determine the methylation status of , this study was designed to determine the utility of one-tube DNA extraction method coupled with a droplet digital PCR (ddPCR) assay, to study the epigenetic changes in the promoter region of the gene using DNA obtained from FFPE.
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