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Tuberous sclerosis complex exhibits a new renal cystogenic mechanism

2019; Wiley; Volume: 7; Issue: 2 Linguagem: Inglês

10.14814/phy2.13983

2051-817X

John J. Bissler, Fahad Zadjali, Dave Bridges, Aristotelis Astrinidis, Sharon Barone, Ying Yao, JeAnna R. Redd, Brian J. Siroky, Yanqing Wang, Joel T. Finley, Michael E. Rusiniak, Heinz Baumann, Kamyar Zahedi, Kenneth W. Gross, Manoocher Soleimani,

Renal and related cancers

Tuberous sclerosis complex (TSC) is a tumor predisposition syndrome with significant renal cystic and solid tumor disease. While the most common renal tumor in TSC, the angiomyolipoma, exhibits a loss of heterozygosity associated with disease, we have discovered that the renal cystic epithelium is composed of type A intercalated cells that have an intact Tsc gene that have been induced to exhibit Tsc-mutant disease phenotype. This mechanism appears to be different than that for ADPKD. The murine models described here closely resemble the human disease and both appear to be mTORC1 inhibitor responsive. The induction signaling driving cystogenesis may be mediated by extracellular vesicle trafficking.