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Jamal H. Carter, Samantha N. McNulty, Patrick J. Cimino, Catherine E

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Presentation on theme: "Jamal H. Carter, Samantha N. McNulty, Patrick J. Cimino, Catherine E"— Presentation transcript:

1 Targeted Next-Generation Sequencing in Molecular Subtyping of Lower-Grade Diffuse Gliomas 
Jamal H. Carter, Samantha N. McNulty, Patrick J. Cimino, Catherine E. Cottrell, Jonathan W. Heusel, Katinka A. Vigh-Conrad, Eric J. Duncavage  The Journal of Molecular Diagnostics  Volume 19, Issue 2, Pages (March 2017) DOI: /j.jmoldx Copyright © 2017 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

2 Figure 1 Schematic flow chart summarizing the diagnostic standing of various recurrent alterations in lower-grade gliomas according to the 2016 World Health Organization central nervous system tumor classification. The Journal of Molecular Diagnostics  , DOI: ( /j.jmoldx ) Copyright © 2017 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

3 Figure 2 Sequencing results organized by IDH1/2 and next-generation sequencing–based 1p/19q codeletion status. Variants displayed are those identified in genes that are either recurrently mutated or otherwise clinically actionable in lower-grade gliomas. Single-nucleotide polymorphisms (single-nucleotide variations in >1% of the population) were excluded. See Variant Annotation and Reporting for details. Boxes with multiple colors indicate more than one variant present. mut, mutant; WT, wild type. The Journal of Molecular Diagnostics  , DOI: ( /j.jmoldx ) Copyright © 2017 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

4 Figure 3 Heat map schematic of the next-generation sequencing–based copy number profiles of chromosomes 1 and 19 relative to the locations of the fluorescence in situ hybridization (FISH) probes used in conventional testing. Cases are grouped by IDH1/2 and next-generation sequencing–based 1p/19q codeletion status. Percentages indicate the variant allele frequency (VAF) of IDH1/2 mutants (mut), when present. WT, wild type. The Journal of Molecular Diagnostics  , DOI: ( /j.jmoldx ) Copyright © 2017 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

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