Raw code relating to http://dx.doi.org/10.2139/ssrn.4102630 Detailed method and use of this code and dataset in the above article
Succinate dehydrogenase deficient renal cell carcinoma represents a rare subtype of hereditary kidney cancer. Clinical diagnosis can be challenging and there is little evidence to guide systemic therapeutic options. We performed genomic profiling of a cohort of tumours through the analysis of whole-genomes, transcriptomes, as well as flow cytometry and immunohistochemistry in order to gain a deeper understanding of their molecular biology. We find neutral evolution after early tumour activation with a lack of secondary driver events. We show that these tumours have epithelial derivation, possibly from neuroepithelial cells of the macula densa, and develop into immune excluded tumours. We provide transcriptomic and protein expression evidence of a highly specific tumour marker, PAPPA2. These translational findings have implications for the diagnosis and treatment for this rare tumour subtype.