Somatic studies on kidney cancer utilize tumor samples compiled from various efforts in Italy, the US, Eastern Europe, and Guatemala. As more samples and accompanying exposure information are collected, investigators are able to study increasingly rare cancer subtypes.
Papillary renal cell carcinoma (PRCC) is the second most common kidney cancer subtype, comprising 10-15 percent of cases. Previous studies have identified two main types of PRCC: Type 1, which is not particularly aggressive, and Type 2, which has a worse prognosis. Further, Type 2 has at least three distinct subtypes with different somatic driver mutations and varying clinical prognoses. DCEG investigators seek to use cutting-edge DNA analysis techniques to further determine the genetic landscape of PRCC tumors and its link with exposures and metastasis.
Collecting Ducts (CD) cancer is an extremely aggressive and rare type of kidney cancer. DCEG investigators have access to tumor samples from dozens of CD cases and use them to conduct whole genome and whole exome studies samples to investigate the tumor landscape also in relation to tumor immune-related cells and metastasis. They are also working towards analyzing cases of high grade urothelial carcinomas in the differential diagnosis of CD, to provide a molecular-based diagnostic tool to correctly distinguish these cancer types.
Chromophobe renal cell carcinoma (ChRCC) is relatively rare, making up about 5 percent of all cases. It is characterized by slow but persistent growth that is highly resistant to conventional cancer therapies. A tiny fraction of ChRCC is hereditary, with some known driver mutations, but the genetic basis of sporadic ChRCC is largely undiscovered. This type of kidney cancer is similar to renal oncocytoma (benign) and they are often hard to distinguish. Hybrids of the two exist as well, suggesting a common origin. DCEG studies tumor samples, working to provide a grading score based on ChRCC’s genetic landscape to distinguish indolent from aggressive cases. Investigators also perform molecular tests to more finely distinguish ChRCC from oncocytomas and identify tumors that have the potential to be more aggressive.
For more information, contact Maria Teresa Landi.