Les variantes pathogènes de la gémine TSC2 propulsent le complexe de sclérose tubereuse (TSC) — plus...
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| ID | BMA-TSC2-GERMLINE-TUBEROUS-SCLEROSIS |
|---|---|
| Type | Pertinence thérapeutique |
| État | reviewed 2026-05-18 | pending_clinical_signoff | actionability review required |
| Maladies | DIS-RCC |
| Sources | SRC-NCCN-CNS-2025 |
Faits relatifs à l ' action en justice
| Biomarqueur | BIO-TSC2-GERMLINE |
|---|---|
| Variante | TSC2 germline pathogenic (tuberin loss-of-function) |
| Maladie | DIS-RCC |
| Niveau ESCAT | IIA |
| Combinaisons recommandées | everolimus 10 mg PO daily — TSC-associated SEGA or renal AML ≥3 cm, sirolimus — LAM with FEV1 decline (off-label), multidisciplinary surveillance per TSC Consensus Conference, nephrology co-management for contiguous-gene TSC2/PKD1 deletion carriers |
| Résumé des faits | TSC2 germline pathogenic variants drive Tuberous Sclerosis Complex (TSC) — the more clinically severe of the two TSC genotypes (TSC2 carriers have earlier onset and broader phenotype than TSC1). Same multi-organ tumor spectrum as TSC1: SEGA, renal AML (typically more numerous and earlier in TSC2), LAM, cardiac rhabdomyoma, cortical tubers. Confirmed-carrier surveillance protocol identical to TSC1 (per TSC Consensus Conference 2012 + 2021 update / NCCN CNS): brain MRI q1-3y through age 25 for SEGA, renal MRI/US q1-3y lifelong, PFT + HRCT chest q5-10y in adult females, baseline echocardiogram, annual dermatology + ophthalmology exam. Contiguous-gene TSC2/PKD1 deletions present with severe polycystic kidney disease in addition to AML and require nephrology co-management. mTOR inhibitors (everolimus, sirolimus) active across SEGA, renal AML ≥3 cm, and LAM. ESCAT IIA. |
Notes
STUB — Wave A+B germline expansion. Linked Indication: none (no TSC-specific Indication entity exists yet). Two-Clinical-Co-Lead signoff queued. TSC2 is functionally interchangeable with TSC1 for treatment selection (both upstream mTOR pathway), but TSC2 carriers warrant earlier surveillance entry (renal MRI from infancy) and screening for PKD1 contiguous-gene deletion.
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