Intramedullary Spinal Cord Tumors: Whole-Genome Sequencing to Assist Management and Prognosis.

ATRX BRAFV600E copy neutral loss of heterozygosity glioblastoma intramedullary spinal cord tumors p53 whole-genome sequencing

Journal

Cancers
ISSN: 2072-6694
Titre abrégé: Cancers (Basel)
Pays: Switzerland
ID NLM: 101526829

Informations de publication

Date de publication:
18 Jan 2024
Historique:
received: 06 11 2023
revised: 12 12 2023
accepted: 02 01 2024
medline: 23 1 2024
pubmed: 23 1 2024
entrez: 23 1 2024
Statut: epublish

Résumé

Intramedullary spinal cord tumors (IMSCTs) harbor unique genetic mutations which may play a role in prognostication and management. To this end, we present the largest cohort of IMSCTs with genetic characterization in the literature from our multi-site institutional registry. A total of 93 IMSCT patient records were reviewed from the years 1999 to 2020. Out of these, 61 complied with all inclusion criteria, 14 of these patients had undergone genetic studies with 8 undergoing whole-genomic sequencing. Univariate analyses were used to assess any factors associated with progression-free survival (PFS) using the Cox proportional hazards model. Firth's penalized likelihood approach was used to account for the low event rates. Fisher's exact test was performed to compare whole-genome analyses and specific gene mutations with progression. PFS (months) was given as a hazard ratio. Only the absence of copy neutral loss of heterozygosity (LOH) was shown to be significant (0.05,

Identifiants

pubmed: 38254893
pii: cancers16020404
doi: 10.3390/cancers16020404
pii:
doi:

Types de publication

Journal Article

Langues

eng

Subventions

Organisme : Emory University
ID : P30CA138292

Auteurs

Miguel Mayol Del Valle (M)

Department of Neurosurgery, Emory University Hospital, 1365 Clifton Road NE, Suite B6200, Atlanta, GA 30322, USA.

Bryan Morales (B)

Department of Neuropathology, Emory University Hospital, 1364 Clifton Road, NE Room H-184, Atlanta, GA 30322, USA.

Brandon Philbrick (B)

Department of Neurosurgery, Emory University School of Medicine, 100 Woodruff Circle, Atlanta, GA 30322, USA.

Segun Adeagbo (S)

Department of Neurosurgery, Emory University School of Medicine, 100 Woodruff Circle, Atlanta, GA 30322, USA.

Subir Goyal (S)

Biostatistics Shared Resource Department, Winship Cancer Institute, Emory University, 1365-C Clifton Road, NE, Atlanta, GA 30322, USA.

Sarah Newman (S)

Department of Neurosurgery, Emory University Hospital, 1365 Clifton Road NE, Suite B6200, Atlanta, GA 30322, USA.

Natasha L Frontera (NL)

School of Medicine, University of Puerto Rico Medical Sciences Campus, P.O. Box 365067, San Juan 00936-5067, Puerto Rico.

Edjah Nduom (E)

Department of Neurosurgery, Emory University Hospital, 1365 Clifton Road NE, Suite B6200, Atlanta, GA 30322, USA.

Jeffrey Olson (J)

Department of Neurosurgery, Emory University Hospital, 1365 Clifton Road NE, Suite B6200, Atlanta, GA 30322, USA.

Stewart Neill (S)

Department of Neuropathology, Emory University Hospital, 1364 Clifton Road, NE Room H-184, Atlanta, GA 30322, USA.

Kimberly Hoang (K)

Department of Neurosurgery, Emory University Hospital, 1365 Clifton Road NE, Suite B6200, Atlanta, GA 30322, USA.

Classifications MeSH