Revisiting CDKN2A dysregulation in Ewing sarcoma

Mol Oncol. 2025 Apr;19(4):994-1001. doi: 10.1002/1878-0261.70008. Epub 2025 Mar 13.

Abstract

Ewing sarcoma (EwS) is a rare and aggressive malignancy, which frequently affects children. One of the few recurrent genomic variants in EwS is genomic copy number deletion of CDKN2A; however, the clinical consequences of dysregulation of CDKN2A in EwS are unclear. In this study, we revisit CDKN2A to investigate its role as a potential prognostic biomarker in EwS using data from EwS pre-clinical models as well as clinical samples from patients with EwS. We demonstrate the potential essentiality of CDKN2A dysregulation and sustained downstream CDK4/CCND1 activity. Finally, we present evidence that high expression of CDKN2A is a negative prognostic biomarker at diagnosis in EwS in three independent datasets. Our data may suggest that the role of CDKN2A may change across the clinical context of EwS, however, further study is necessary to validate the function of CDKN2A expression in EwS.

Keywords: biomarker; next‐generation sequencing; prognosis.

MeSH terms

  • Biomarkers, Tumor / genetics
  • Biomarkers, Tumor / metabolism
  • Bone Neoplasms* / genetics
  • Bone Neoplasms* / metabolism
  • Bone Neoplasms* / pathology
  • Cell Line, Tumor
  • Child
  • Cyclin D1 / genetics
  • Cyclin D1 / metabolism
  • Cyclin-Dependent Kinase 4 / metabolism
  • Cyclin-Dependent Kinase Inhibitor p16* / genetics
  • Cyclin-Dependent Kinase Inhibitor p16* / metabolism
  • Female
  • Gene Expression Regulation, Neoplastic*
  • Humans
  • Male
  • Prognosis
  • Sarcoma, Ewing* / diagnosis
  • Sarcoma, Ewing* / genetics
  • Sarcoma, Ewing* / metabolism
  • Sarcoma, Ewing* / pathology

Substances

  • Cyclin-Dependent Kinase Inhibitor p16
  • CDKN2A protein, human
  • Cyclin-Dependent Kinase 4
  • Biomarkers, Tumor
  • Cyclin D1

Grants and funding