Here, we report that the transcription factor HNF1B is downregulated in the majority of ChRCC and that the magnitude of <i>HNF1B</i> loss is unique to ChRCC.
In summary, our study provides genomic insights into the metastatic progression of chRCC and identifies TP53 mutations, PTEN mutations, and ICD as high-risk features.
We demonstrate that TP53 mutations (58%), PTEN mutations (24%), and imbalanced chromosome duplication (ICD, duplication of ≥ 3 chromosomes) (25%) were enriched in M-chRCC.
Utility of cytokeratin 7, S100A1 and caveolin-1 as immunohistochemical biomarkers to differentiate chromophobe renal cell carcinoma from renal oncocytoma.
HOT should be considered as an emerging renal entity because it does not meet the diagnostic criteria for other recognized eosinophilic renal tumors, such as oncocytoma, chromophobe renal cell carcinoma (RCC), TFE3 and TFEB RCC, SDH-deficient RCC, and eosinophilic solid and cystic RCC.
No genetic alterations to the VHL and SDHB genes were detected in either the tumor tissue or tissues adjacent to the tumor, which led us to rule out a hereditary syndrome that could explain the association between paraganglioma and chromophobe renal cell carcinoma in a patient with arterial hypertension.