From Banding to BAM Files: Genomics Informs Diagnosis and Precision Medicine for Brain Tumors.

Brain Neoplasms / diagnosis Genetic Markers / genetics Humans Karyotyping / methods Precision Medicine / methods Exome Sequencing / methods
Brain tumors Central nervous system (CNS) Cytogenetics Epigenomics Genomics Next-generation sequencing

Journal

Surgical pathology clinics
ISSN: 1875-9157
Titre abrégé: Surg Pathol Clin
Pays: United States
ID NLM: 101491209

Informations de publication

Date de publication:
Jun 2020
Historique:
entrez: 12 5 2020
pubmed: 12 5 2020
medline: 20 3 2021
Statut: ppublish

Résumé

Tumors of the central nervous system (CNS) have been historically classified according to their morphologic and immunohistochemical features. In 2016, updates to the classification of tumors of the CNS by the World Health Organization revolutionized this paradigm. For the first time, genomic findings, whether whole-arm chromosomal aberrations or single nucleotide variants, represent a necessary and critical component of diagnosis, contributing or superseding histologic findings. These updates stem from decades of technical innovation and genomic discovery. During this time, there has been a dramatic expansion and evolution in clinical genomic assays for these tumors, informing diagnosis and guiding therapeutic management.

Identifiants

DOI: 10.1016/j.path.2020.02.007 PMID: 32389271
pubmed: 32389271
pii: S1875-9181(20)30013-1
doi: 10.1016/j.path.2020.02.007
pii:
doi:

Substances chimiques

Genetic Markers 0

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

343-347

Informations de copyright

Copyright © 2020 Elsevier Inc. All rights reserved.

Auteurs

Adrian M Dubuc (AM)

Department of Pathology, Harvard Medical School, Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115, USA. Electronic address: adubuc@bwh.harvard.edu.

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Classifications MeSH

questionsmedicales.fr › Maladies du système nerveux › Tumeurs du système nerveux › Tumeurs du système nerveux central › Tumeurs du cerveau › From Banding to BAM Files: Genomics Informs...
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Marqueurs génétiques › From Banding to BAM Files: Genomics Informs...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › From Banding to BAM Files: Genomics Informs...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse cytogénétique › Caryotypage › From Banding to BAM Files: Genomics Informs...
questionsmedicales.fr › Professions de santé › Médecine › Médecine clinique › Médecine de précision › From Banding to BAM Files: Genomics Informs...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › Séquençage du génome entier › Séquençage de l'exome › From Banding to BAM Files: Genomics Informs...