{"entity":{"id":"tuberous-sclerosis-complex","kind":"term","name":"Tuberous sclerosis complex","aka":["TSC","tuberous sclerosis"],"tldr":"Tuberous sclerosis complex is an inherited condition, caused by a fault in TSC1 or TSC2, that grows non-cancerous tumours in the brain, kidneys, heart and skin and raises the risk of kidney cancer. Regular brain and kidney scans guide treatment, and tablets called mTOR inhibitors shrink several of these tumours.","summary":"Autosomal dominant; about 1 in 5,800 to 13,520 live births, two-thirds from a new variant. A heterozygous pathogenic variant in TSC1 or TSC2 is diagnostic, but 10 to 15% of people meeting clinical criteria have none found. Hallmark tumours: subependymal giant cell astrocytoma, renal angiomyolipoma, renal cell carcinoma (mean onset 36 years), cardiac rhabdomyoma and retinal hamartoma; pancreatic neuroendocrine tumours are increasingly found.\n\nThe 2025 AACR paediatric update recommends brain MRI at diagnosis and every one to three years under 25; renal MRI at diagnosis then abdominal ultrasound every one to three years, noting that most guidelines treat angiomyolipomas only when larger than 3 cm; and referral to a TSC centre. Surgery and mTOR inhibitors such as everolimus are the mainstays for TSC tumours. International diagnostic criteria and surveillance were updated in 2021 (Northrup, Pediatric Neurology).","asOf":"2026-11-04","wikipedia":"https://en.wikipedia.org/wiki/Tuberous_sclerosis","links":[{"label":"Clin Cancer Res 2025: paediatric surveillance for PTEN hamartoma tumour syndrome, DICER1 and tuberous sclerosis complex (AACR update)","url":"https://doi.org/10.1158/1078-0432.ccr-24-1947"},{"label":"Northrup, Pediatr Neurol 2021: updated international TSC diagnostic criteria and surveillance and management recommendations","url":"https://doi.org/10.1016/j.pediatrneurol.2021.07.011"},{"label":"Orphanet ORPHA:805","url":"https://www.orpha.net/en/disease/detail/805"},{"label":"NHS England National Genomic Test Directory, rare and inherited disease, version 9 (spreadsheet)","url":"https://www.england.nhs.uk/wp-content/uploads/2018/08/rare-and-inherited-disease-national-genomics-test-directory-v9.xlsx"}],"tags":["gap-fill","hereditary"],"related":[],"cancers":["pecoma","rcc"],"sections":[],"technologies":["germline-testing"],"targets":["tsc1","tsc2"],"drugs":["everolimus"],"companies":[],"institutions":[],"pathways":[],"terms":["hereditary-cancer-syndromes"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["NHS England genomic test directory: R228 (TSC1 and TSC2). Orphanet ORPHA:805."],"category":"Genomics & genetics"},"route":"/terms/tuberous-sclerosis-complex/","neighbours":{"cancer":[{"id":"pecoma","kind":"cancer","name":"Perivascular epithelioid cell tumour (PEComa)","route":"/cancers/pecoma/"},{"id":"rcc","kind":"cancer","name":"Renal cell carcinoma","route":"/cancers/rcc/"}],"technology":[{"id":"germline-testing","kind":"technology","name":"Germline (hereditary) testing","route":"/technologies/germline-testing/"}],"target":[{"id":"tsc1","kind":"target","name":"TSC1","route":"/targets/tsc1/"},{"id":"tsc2","kind":"target","name":"TSC2","route":"/targets/tsc2/"}],"drug":[{"id":"everolimus","kind":"drug","name":"Everolimus","route":"/drugs/everolimus/"}],"term":[{"id":"hereditary-cancer-syndromes","kind":"term","name":"Hereditary cancer syndromes","route":"/terms/hereditary-cancer-syndromes/"}]}}