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
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