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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.
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.
The 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).
In plain words · TSC1 (Hamartin) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, a tumour suppressor and a biomarker, and an approved or late-stage drug is recorded against it. Tied to Bladder & urothelial cancer, Hepatocellular carcinoma, Renal cell carcinoma and 5 more.
Showing the target this term concerns: TSC1.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing, Renal cell carcinoma and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
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