[HTML][HTML] Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations

H Northrup, ME Aronow, EM Bebin, J Bissler… - Pediatric Neurology, 2021 - Elsevier
Background Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease
affecting multiple body systems with wide variability in presentation. In 2013, Pediatric …

Recent advances in renal tumors with TSC/mTOR pathway abnormalities in patients with tuberous sclerosis complex and in the sporadic setting

P Kapur, J Brugarolas, K Trpkov - Cancers, 2023 - mdpi.com
Simple Summary In the past decade, several novel renal neoplasms characterized by
mutations in the tuberous sclerosis complex (TSC) or mechanistic target of rapamycin …

[HTML][HTML] From kidney injury to kidney cancer

AJ Peired, E Lazzeri, F Guzzi, HJ Anders… - Kidney international, 2021 - Elsevier
Epidemiological studies document strong associations between acute or chronic kidney
injury and kidney tumors. However, whether these associations are linked by causation, and …

Clinical practice recommendations for kidney involvement in tuberous sclerosis complex: a consensus statement by the ERKNet Working Group for Autosomal …

D Mekahli, RU Müller, M Marlais… - Nature Reviews …, 2024 - nature.com
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the
presence of proliferative lesions throughout the body. Management of TSC is challenging …

Cystic kidney disease in tuberous sclerosis complex: current knowledge and unresolved questions

S Gallo-Bernal, A Kilcoyne, MS Gee, E Paul - Pediatric Nephrology, 2023 - Springer
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder with an estimated
incidence of one in 5000 to 10,000 live births worldwide. Two million people of all races and …

[HTML][HTML] Renal angiomyolipoma

WP Skelton, SW Leslie - StatPearls [Internet], 2024 - ncbi.nlm.nih.gov
Renal Angiomyolipoma - StatPearls - NCBI Bookshelf US flag An official website of the United
States government Here's how you know NIH NLM Logo Access keys NCBI Homepage …

Lessons from histopathologic examination of nephrectomy specimens in patients with tuberous sclerosis complex: cysts, angiomyolipomas, and renal cell carcinoma

S Gupta, ML Stanton, JP Reynolds, RD Whaley… - Human Pathology, 2022 - Elsevier
Renal manifestations in patients with tuberous sclerosis complex (TSC) include cysts,
angiomyolipoma, and renal cell carcinoma. Unlike many hereditary predisposition …

Direct and indirect costs and cost-driving factors in adults with tuberous sclerosis complex: a multicenter cohort study and a review of the literature

JP Zöllner, J Grau, F Rosenow, M Sauter… - Orphanet journal of rare …, 2021 - Springer
Background Tuberous sclerosis complex (TSC) is a monogenetic, multisystem disorder
characterized by benign growths due to TSC1 or TSC2 mutations. This German multicenter …

Pathology of hereditary renal cell carcinoma syndromes: Tuberous sclerosis complex (TSC)

ME Machacek, CL Wu, KM Cornejo - Seminars in Diagnostic Pathology, 2024 - Elsevier
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease characterized
by hamartomatous tumors involving multiple organs such as the brain, skin, heart, lung and …

Diseases of hereditary renal cell cancers

O Iliopoulos - Urologic Clinics, 2023 - urologic.theclinics.com
The disease takes its name after the German ophthalmologist Eugen von Hippel who
described the presence of angiomas in the retina in 1904, and Dr Arnold Lindau, a Swedish …