학술논문
A Retrospective Genomic Landscape of 661 Young Adult Glioblastomas Diagnosed Using 2016 WHO Guidelines for Central Nervous System Tumors.
Document Type
Academic Journal
Author
Haberberger JF; Pathology Department, Foundation Medicine, Morrisville, NC, USA.; Pegram W; Pathology Department, Foundation Medicine, Morrisville, NC, USA.; Britt N; Pathology Department, Foundation Medicine, Morrisville, NC, USA.; Schiavone K; Pathology Department, Foundation Medicine, Morrisville, NC, USA.; Severson E; Pathology Department, Foundation Medicine, Morrisville, NC, USA.; Sharaf R; Pathology Department, Foundation Medicine, Cambridge, MA, USA.; Albacker LA; Pathology Department, Foundation Medicine, Cambridge, MA, USA.; Williams E; Pathology Department, Foundation Medicine, Cambridge, MA, USA.; Lechpammer M; Pathology Department, Foundation Medicine, Morrisville, NC, USA.; Hemmerich A; Pathology Department, Foundation Medicine, Morrisville, NC, USA.; Lin D; Pathology Department, Foundation Medicine, Morrisville, NC, USA.; Huang RSP; Pathology Department, Foundation Medicine, Morrisville, NC, USA.; Hiemenz M; Pathology Department, Foundation Medicine, Cambridge, MA, USA.; Elvin J; Pathology Department, Foundation Medicine, Cambridge, MA, USA.; Graf R; Pathology Department, Foundation Medicine, Cambridge, MA, USA.; Lesser G; Pathology Department, Section on Hematology-Oncology, Wake Forest School of Medicine, Winston Salem, NC, USA.; Kram D; Pathology Department, Section on Hematology-Oncology, Wake Forest School of Medicine, Winston Salem, NC, USA.; Strowd R; Pathology Department, Section on Hematology-Oncology, Wake Forest School of Medicine, Winston Salem, NC, USA.; Bi WL; Department of Neurosurgery, Brigham and Women's Hospital, Boston, MA, USA.; Ramkissoon LA; Pathology Department, University of North Carolina School of Medicine, Chapel Hill, NC, USA.; Cohen MB; Wake Forest Comprehensive Cancer Center and Department of Pathology, Wake Forest School of Medicine, Winston-Salem, NC, USA.; Reddy P; Pathology Department, Foundation Medicine, Cambridge, MA, USA.; Creeden J; Pathology Department, Foundation Medicine, Cambridge, MA, USA.; Ross JS; Pathology Department, Foundation Medicine, Cambridge, MA, USA.; Pathology Department, SUNY Upstate Medical University, Syracuse, NY, USA.; Alexander BM; Pathology Department, Foundation Medicine, Cambridge, MA, USA.; Ramkissoon SH; Pathology Department, Foundation Medicine, Morrisville, NC, USA.; Wake Forest Comprehensive Cancer Center and Department of Pathology, Wake Forest School of Medicine, Winston-Salem, NC, USA.
Source
Publisher: Oxford University Press Country of Publication: England NLM ID: 9607837 Publication Model: Print Cited Medium: Internet ISSN: 1549-490X (Electronic) Linking ISSN: 10837159 NLM ISO Abbreviation: Oncologist Subsets: MEDLINE
Subject
Language
English
Abstract
The authors present a cohort of 661 young adult glioblastomas diagnosed using 2016 WHO World Health Organization Classification of Tumors of the Central Nervous System, utilizing comprehensive genomic profiling (CGP) to explore their genomic landscape and assess their relationship to currently defined disease entities. This analysis explored variants with evidence of pathogenic function, common copy number variants (CNVs), and several novel fusion events not described in literature. Tumor mutational burden (TMB) mutational signatures, anatomic location, and tumor recurrence are further explored. Using data collected from CGP, unsupervised machine-learning techniques were leveraged to identify 10 genomic classes in previously assigned young adult glioblastomas. The authors relate these molecular classes to current World Health Organization guidelines and reference current literature to give therapeutic and prognostic descriptions where possible.
(© The Author(s) 2023. Published by Oxford University Press.)
(© The Author(s) 2023. Published by Oxford University Press.)