Fig. 1: Nomination of cancer-specific biomarkers for MiTF-RCC.

A Volcano plot demonstrating significantly differentially expressed genes (fold-change >2, BH adjusted p value <0.05) in MiTF-RCC compared to other RCC subtypes and normal kidney. Pink dots: upregulated genes (n = 734); green dots: downregulated genes (n = 355); Selected top-ranking up- and down-regulated genes were circled and labeled. TRIM63, NMRK2, and HHATL were among the top-ranked up-regulated genes. B Heatmap revealed top 25 candidate biomarkers that are highly specific to MiTF-RCC. RCC diagnoses from the TCGA RCC cohort were annotated on the left side of the heatmap. Cancer samples with high expression of candidate biomarkers were almost exclusively MiTF-RCC. C Violin plot exhibiting the expression of top MiTF-RCC cancer-specific genes across major RCC subtypes. TRIM63 showed the highest specificity to MiTF-RCC among the top candidates. MiT family aberration-associated renal cell carcinoma (MiTF-RCC), papillary renal cell carcinoma (PRCC), chromophobe renal cell carcinoma (ChRCC), clear cell renal cell carcinoma (CCRCC), and benign renal parenchyma (normal).