A novel computational pathology approach for identifying gene signatures prognostic of disease-free survival for papillary thyroid carcinomas

Eur J Cancer. 2024 Nov:212:114326. doi: 10.1016/j.ejca.2024.114326. Epub 2024 Sep 17.

Abstract

Introduction: Papillary thyroid carcinoma (PTC) is the most prevalent form of thyroid cancer, with the classical and follicular variants representing most cases. Despite generally favorable prognoses, approximately 10% of patients experience recurrence post-surgery and radioactive iodine therapy. Attempts to stratify risk of recurrence have relied on gene expression-based prognostic and predictive signatures with a focus on mutations of well-known driver genes, while hallmarks of tumor morphology have been ignored.

Objectives: We introduce a new computational pathology approach to develop prognostic gene signatures for PTC that is informed by quantitative features of tumor and immune cell morphology.

Methods: We quantified nuclear and immune-related features of tumor morphology to develop a pathomic signature, which was then used to inform an RNA-expression signature model provides a notable advancement in risk stratification compared to both standalone and pathology-informed gene-expression signatures.

Results: There was a 17.8% improvement in the C-index (from 0.605 to 0.783) for 123 cPTCs and 15% (from 0.576 to 0.726) for 38 fvPTCs compared to the standalone gene-expression signature. Hazard ratios also improved for cPTCs from 0.89 (0.67,0.99) to 4.43 (3.65,6.68) and fvPTC from 0.98 (0.76,1.32) to 2.28 (1.87,3.64). We validated the image-based risk model on an independent cohort of 32 cPTCs with hazard ratio 1.8 (1.534,2.167).

Keywords: Cancer prognosis; Digital pathology; Gene signature; Papillary thyroid carcinoma.

MeSH terms

  • Adult
  • Aged
  • Biomarkers, Tumor / genetics
  • Computational Biology / methods
  • Disease-Free Survival
  • Female
  • Gene Expression Profiling* / methods
  • Humans
  • Male
  • Middle Aged
  • Neoplasm Recurrence, Local / genetics
  • Neoplasm Recurrence, Local / pathology
  • Prognosis
  • Risk Assessment
  • Thyroid Cancer, Papillary* / genetics
  • Thyroid Cancer, Papillary* / mortality
  • Thyroid Cancer, Papillary* / pathology
  • Thyroid Neoplasms* / genetics
  • Thyroid Neoplasms* / mortality
  • Thyroid Neoplasms* / pathology
  • Transcriptome

Substances

  • Biomarkers, Tumor