Nat Commun: Genome-wide sequencing reveals genomic changes associated with tumor recurrence and spinal cord tumor-specific survival

Spinal cord tumor is a rare bone tumor, which usually occurs in the central axis bone of the skull, vertebrae and tizoel, with unknown causes and high recurrence rates.
U.S. Surveillance Epidemiology and Final Results (SEER) data show that the incidence of spinal cord tumors varies by sex and race, but the cause of the disease is still unknown.
results related to genomic analysis of spinal cord tumors are still limited.
, the largest sequencing analysis to date included 104 patients with spinal cordoma, but only 11 tumors were analyzed for whole genome sequencing (WGS).
in previous studies, the TBXT gene, a transcription factor that plays an important role in embryonic development, has been identified as the primary susceptible mechanism of familial spina blond tumors.
common genetic polymorphisms associated with TBXT have also been shown to be associated with an increased risk of familial and extrinsic spinal cord tumors.
study, researchers sequenced the entire genome of 80 samples of cranial spinal cord tumors and identified PPM1, a SWI/SNF composite sub-base gene, as a significant mutation-driven gene.
of these samples, genome changes in PBRM1 (12.5%) and purity loss in the CDKN2A/2B gene base were the most common events.
genome-driven landscape researchers found that genome changes in PBRM1 combined with the absence of 22q chromosomes (involving another SWI/SNF gene, SMARCB1), were associated with poor spinal cord tumor-specific survival and recurrence.
Although the mutation rate of these genomes is low, widespread somatic cell copy number variations often occur and a high degree of consistency is shown between pairs of primary and recurrence/transfer samples, which also indicates the importance of these genome changes in the development of spinal cord tumors.
genomic characteristics are associated with spinal cord tumor specific survival rate (CSS) and resuscation rate (RFS), the results provide important biological data and clinical insights for cranial spinal cord tumors.