Endocrine oncology

Long-term Survivors of Anaplastic Thyroid Cancer: A Genomic Predictive Model

J Clin Endocrinol MetabPublished Retrospective cohort study

Authors' conclusion

This model identifies mutated genes that are associated with the most aggressive ATCs and thus may aid in preoperative risk assessment when evaluating patients for surgery for curative intent.

Study context

Population
Anaplastic thyroid cancer (ATC) samples with sequencing and survival data, cBioPortal database
Participants
204 ATC samples
Exposure
More aggressive vs less aggressive risk cohorts
  • More aggressiven = 37
  • Less aggressiven = 128reference
Outcome
Overall survival
Methodological details80% training and 20% validation cohorts, point-based risk model, multi-institutional, international genomic database
  • 80% training and 20% validation cohorts
  • Point-based risk model
  • Multi-institutional, international genomic database

Main finding

As reported in the abstract

1 year
Risk model C-index
0.74
Genes associated with increased risk: TET1, MAPK12, ATP10A, PIK3CA, MUC4, PNPLA2, PLD4, EGLN2, BSN, FLNC, RADIL, ZMYND8, FRAS1, RECQL4
14

Observational data: associations, not effects.

Further findings

Survival in validation cohort and BRAF subanalysis

Survival remained significantly different between risk cohorts in validation cohort and on BRAF subanalysis

KEGG pathway enrichment

Significantly increased enrichment across several pathways for more aggressive tumors

Original publication

Long-term Survivors of Anaplastic Thyroid Cancer: A Genomic Predictive Model. J Clin Endocrinol Metab. Published 15 July 2025. doi:10.1210/clinem/dgaf391

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