SignificanceThe mechanisms of chromophobe renal cell carcinoma (ChRCC) pathogenesis remain a key knowledge gap. Through metabolomics, this study uncovered a fundamental metabolic mechanism underlying the pathogenesis of ChRCC, with key therapeutic implications for this rare tumor type, for which there are currently no specific targeted therapies. Further understanding of the impact of glutathione salvage pathway on mitochondrial function, tumor progression, and targeted therapy can provide insight into other cancers characterized by aberrant glutathione salvage pathway.
In just the past five years, dramatic changes have occurred in the clinical management of Tuberous Sclerosis Complex (TSC). Detailed knowledge about the role of the TSC proteins in regulating the activity of the mammalian Target of Rapamycin Complex 1 (mTORC1) underlies this paradigm-shifting progress. Advances continue to be made in understanding the genetic pathogenesis of the different tumours that occur in TSC, including pivotal discoveries using next-generation sequencing (NGS). For example, the pathogenesis of angiofibromas is now known to involve UV-induced mutations, and the pathogenesis of multifocal renal cell carcinoma (RCC) in TSC is now known to result from distinct second-hit mutations. In parallel, the pathological features of TSC-associated tumours, including TSC-associated renal cell carcinoma, continue to be defined, despite the fact that TSC was first described 180 years ago. Here, we review recent discoveries related to the pathologic features and genetic pathogenesis of TSC-associated tumours.
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