Molecular Profiling and Real-world Outcomes of BRAF V600E-Mutated Papillary Thyroid Cancer

Clin Cancer Res. 2026 Mar 16;32(6):1110-1119. doi: 10.1158/1078-0432.CCR-25-3932.

Abstract

Purpose: Radioactive iodine-refractory papillary thyroid cancers (PTC) containing BRAF V600E mutations can be treated with BRAF/MEK inhibitors (BRAF/MEKi), but their effectiveness compared with tyrosine kinase inhibitors (TKI) and immunotherapy (IO) remains unclear. Therefore, we compared real-world survival and molecular/transcriptional signatures in patients with BRAF V600E-mutated (BRAF-mut) and BRAF wild-type (WT) PTC.

Experimental design: Thyroid tumor samples underwent DNA/RNA next-generation sequencing and immunohistochemistry at Caris Life Sciences. Tumor microenvironment (TME) cell fractions were estimated by RNA deconvolution using quanTIseq. Insurance claims data were used to infer real-world overall survival (OS) and time on treatment.

Results: A total of 1,348 patients with differentiated thyroid cancer were identified; 81.8% were classified as PTC, of which 68.4% harbored a BRAF V600E mutation. TERT promoter mutations were the most common mutation in PTC (72%) and were more prevalent in BRAF-mut versus BRAF-WT. Mutations in NRAS, HRAS, and KRAS, as well as RET, BRAF, and ETV6 gene fusions, were predominantly found in BRAF-WT PTC. BRAF-mut PTC were more often PD-L1+ (33% vs. 18%, P < 0.001) and had significantly higher IFNγ scores. OS was not significantly different between patients with BRAF-mut versus BRAF-WT PTC. Systemic treatment (BRAF/MEKi, TKI, or IO) was not associated with significant differences in OS in BRAF-mut PTC, although there was a trend for longer OS in those treated with TKI compared with BRAF/MEKi or IO.

Conclusions: BRAF-mut PTC is associated with a proinflammatory TME milieu compared with BRAF-WT PTC. However, in this limited dataset, treatment choice was not associated with differences in OS in BRAF-mut PTC.

MeSH terms

  • Adult
  • Aged
  • Biomarkers, Tumor* / genetics
  • Female
  • Gene Expression Profiling
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Prognosis
  • Protein Kinase Inhibitors / therapeutic use
  • Proto-Oncogene Proteins B-raf* / antagonists & inhibitors
  • Proto-Oncogene Proteins B-raf* / genetics
  • Thyroid Cancer, Papillary* / drug therapy
  • Thyroid Cancer, Papillary* / genetics
  • Thyroid Cancer, Papillary* / mortality
  • Thyroid Cancer, Papillary* / pathology
  • Thyroid Cancer, Papillary* / therapy
  • Thyroid Neoplasms* / genetics
  • Thyroid Neoplasms* / mortality
  • Thyroid Neoplasms* / pathology
  • Thyroid Neoplasms* / therapy
  • Tumor Microenvironment / genetics

Substances

  • Proto-Oncogene Proteins B-raf
  • BRAF protein, human
  • Biomarkers, Tumor
  • Protein Kinase Inhibitors

Grants and funding