Everolimus (mTOR inhibitor) is FDA-approved (2012) for renal angiomyolipoma (AML) associa...
Vue déterministe de l'entité source de la LJAM. L'autorité clinique demeure avec les ID de la source cités et l'état d'approbation de l ́examinateur.
| ID | BMA-TSC1-TSC-RENAL-AML |
|---|---|
| Type | Pertinence thérapeutique |
| État | reviewed 2026-05-04 | pending_clinical_signoff | actionability review required |
| Maladies | DIS-LAM |
| Sources | SRC-NCCN-KIDNEY-2025 |
Faits relatifs à l ' action en justice
| Biomarqueur | BIO-TSC1 |
|---|---|
| Variante | Perte de fonction génésique TSC1 ou TSC2 — Sclérose tuberculeuse Complexe avec angiomyolipome rénal (AML) ≥ 3 cm ou en croissance, à risque d'hémorragie (syndrome de Wunderlich) |
| Maladie | DIS-LAM |
| Niveau ESCAT | IB |
| Combinaisons recommandées | everolimus 10 mg PO QD (TSC renal AML ≥3 cm growing/at risk; EXIST-2 regimen; monitor trough levels target 3–15 ng/mL) |
| Résumé des faits | Everolimus (mTOR inhibitor) is FDA-approved (2012) for renal angiomyolipoma (AML) associated with TSC. EXIST-2 phase III (Bissler et al., Lancet 2013): N=118 (everolimus 10 mg vs placebo); primary endpoint: AML response rate (≥50% reduction in sum of longest diameters of target AMLs). AML response: 42% (everolimus) vs 0% (placebo) (p<0.0001); mDOR: not reached. Disease stabilization: 96% vs 55%. Everolimus also reduces AML growth rate and risk of spontaneous hemorrhage (Wunderlich syndrome). In TSC patients with AMLs ≥3 cm, prophylactic everolimus is preferred to prophylactic embolization per current guidelines. Note: TSC1 germline is the biomarker for eligibility (Tuberous Sclerosis Complex diagnosis required); sporadic renal AML without TSC features are a different entity. ESCAT IB: phase III RCT data but for renal angiomyolipoma (benign disease context, not malignant RCC — thus IB not IA despite strong evidence). |
Notes
ESCAT IB (note: disease_id is DIS-RCC as closest match; this indication is specifically renal angiomyolipoma in TSC — a benign smooth-muscle/fat tumor, not RCC). TSC management requires multidisciplinary approach (neurology, nephrology, pulmonology/LAM, dermatology, ophthalmology, genetics). Renal AML surveillance: MRI or ultrasound q1–3 years depending on size and growth; embolization reserved for acute hemorrhage (Wunderlich syndrome) or when surgery required. Everolimus vs embolization: everolimus preferred for growing AML <3 cm or multiple AMLs; embolization for acute hemorrhage or very large (>8 cm) AMLs. Sorafenib, sunitinib, and mTOR inhibitors (everolimus, temsirolimus) are approved for conventional clear-cell RCC — different indication from TSC-associated AML. Malignant transformation of renal AML is extremely rare (<1%).
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