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- W4386852104 abstract "Tuberous sclerosis complex (TSC) is an is an autosomal dominant genetic disease characterized by hamartomatous tumors involving multiple organs such as the brain, skin, heart, lung and kidney. TSC is caused by inactivating mutations in TSC1/TSC2, which encodes hamartin and tuberin, respectively, and forms a complex that regulates mechanistic target of rapamycin complex 1 (mTORC1), resulting in cell overgrowth and oncogenesis. This review describes the important pathologic findings in patients with TSC, with an emphasis on renal neoplasia and their correlating sporadic counterparts, given the leading cause of morbidity and mortality relates to chronic kidney disease and the ability to preserve renal function. The most common renal tumor in these patients are AMLs, followed by a heterogeneous spectrum of renal epithelial tumors, which may provide clues to establishing a diagnosis of TSC in these patients." @default.
- W4386852104 created "2023-09-20" @default.
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- W4386852104 date "2023-09-01" @default.
- W4386852104 modified "2023-09-27" @default.
- W4386852104 title "Pathology of Hereditary Renal Cell Carcinoma Syndromes: Tuberous Sclerosis Complex (TSC)" @default.
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- W4386852104 doi "https://doi.org/10.1053/j.semdp.2023.09.001" @default.
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