Chromosomal instability in adult-type diffuse gliomas.

Astrocytoma CIN Chromosomal instability Chromothripsis Copy number burden Copy number variation Glioblastoma Glioma Oligodendroglioma

Journal

Acta neuropathologica communications
ISSN: 2051-5960
Titre abrégé: Acta Neuropathol Commun
Pays: England
ID NLM: 101610673

Informations de publication

Date de publication:
17 08 2022
Historique:
received: 12 07 2022
accepted: 04 08 2022
entrez: 17 8 2022
pubmed: 18 8 2022
medline: 20 8 2022
Statut: epublish

Résumé

Chromosomal instability (CIN) is a fundamental property of cancer and a key underlying mechanism of tumorigenesis and malignant progression, and has been documented in a wide variety of cancers, including colorectal carcinoma with mutations in genes such as APC. Recent reports have demonstrated that CIN, driven in part by mutations in genes maintaining overall genomic stability, is found in subsets of adult-type diffusely infiltrating gliomas of all histologic and molecular grades, with resulting elevated overall copy number burden, chromothripsis, and poor clinical outcome. Still, relatively few studies have examined the effect of this process, due in part to the difficulty of routinely measuring CIN clinically. Herein, we review the underlying mechanisms of CIN, the relationship between chromosomal instability and malignancy, the prognostic significance and treatment potential in various cancers, systemic disease, and more specifically, in diffusely infiltrating glioma subtypes. While still in the early stages of discovery compared to other solid tumor types in which CIN is a known driver of malignancy, the presence of CIN as an early factor in gliomas may in part explain the ability of these tumors to develop resistance to standard therapy, while also providing a potential molecular target for future therapies.

Identifiants

pubmed: 35978439
doi: 10.1186/s40478-022-01420-w
pii: 10.1186/s40478-022-01420-w
pmc: PMC9386991
doi:

Types de publication

Journal Article Review Research Support, Non-U.S. Gov't Research Support, N.I.H., Extramural

Langues

eng

Sous-ensembles de citation

IM

Pagination

115

Subventions

Organisme : NINDS NIH HHS
ID : R01 NS106229
Pays : United States
Organisme : NIDA NIH HHS
ID : RF1 DA048810
Pays : United States

Informations de copyright

© 2022. The Author(s).

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Auteurs

Timothy E Richardson (TE)

Department of Pathology, Molecular, and Cell-Based Medicine, Icahn School of Medicine at Mount Sinai, Annenberg Building, 15th Floor, 1468 Madison Avenue, New York, NY, 10029, USA. timothy.richardson@mountsinai.org.

Jamie M Walker (JM)

Department of Pathology, Molecular, and Cell-Based Medicine, Icahn School of Medicine at Mount Sinai, Annenberg Building, 15th Floor, 1468 Madison Avenue, New York, NY, 10029, USA.
Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.

Kalil G Abdullah (KG)

Department of Neurosurgery, University of Pittsburgh School of Medicine, 200 Lothrop St, Pittsburgh, PA, 15213, USA.
Hillman Comprehensive Cancer Center, University of Pittsburgh Medical Center, 5115 Centre Ave, Pittsburgh, PA, 15232, USA.

Samuel K McBrayer (SK)

Simmons Comprehensive Cancer Center, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA.
Children's Medical Center Research Institute, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA.

Mariano S Viapiano (MS)

Department of Neuroscience and Physiology, State University of New York, Upstate Medical University, Syracuse, NY, 13210, USA.
Department of Neurosurgery, State University of New York, Upstate Medical University, Syracuse, NY, 13210, USA.

Zarmeen M Mussa (ZM)

Department of Pathology, Molecular, and Cell-Based Medicine, Icahn School of Medicine at Mount Sinai, Annenberg Building, 15th Floor, 1468 Madison Avenue, New York, NY, 10029, USA.

Nadejda M Tsankova (NM)

Department of Pathology, Molecular, and Cell-Based Medicine, Icahn School of Medicine at Mount Sinai, Annenberg Building, 15th Floor, 1468 Madison Avenue, New York, NY, 10029, USA.
Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.

Matija Snuderl (M)

Department of Pathology, New York University Langone Health, New York City, NY, 10016, USA.

Kimmo J Hatanpaa (KJ)

Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA.

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