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Mutation par perte de fonction TSC1 (hamartine)

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IDBIO-TSC1
TypeBiomarqueur
Alias
Mutation TSC1Мутація втрати функції TSC1 (гамартин)
Étatreviewed 2026-05-04 | pending_clinical_signoff
MaladiesDIS-LAM
SourcesSRC-MILES-MCCORMACK-2011 SRC-NCCN-KIDNEY-2025

Données biomarqueurs

Type de biomarqueurgene_mutation
Détails de la mutation{"exon": "multiple", "functional_impact":"perte de fonction", "générique": «TSC1", "variant_type": „perte d'une fonction (décalage, absurdité, épingle, large suppression)"}
Mesure
MéthodeGermline NGS panel (blood/saliva) for TSC diagnosis; tumor NGS for somatic TSC1/TSC2 in LAM/renal AML. TSC1 mutations less common than TSC2 in sporadic LAM (~10% vs ~80%).
Recherche de la faisabilité{"gene": "TSC1", "variant": "loss_of_function"}
Biomarqueurs connexesAucune déclaration

Notes

TSC1 (hamartin) forms a heterodimeric complex with TSC2 (tuberin) that acts as a GTPase activating protein (GAP) for Rheb, maintaining mTORC1 in an inactive state. Loss of either TSC1 or TSC2 → constitutive mTORC1 activation → protein synthesis, cell growth, proliferation. Clinical manifestations of TSC1 loss: (1) Tuberous Sclerosis Complex (TSC) — germline TSC1 (~30%) or TSC2 (~70%): cortical tubers, SEGA, renal AML, cardiac rhabdomyomas, LAM (females), skin lesions. TSC1 germline associated with milder phenotype than TSC2. (2) LAM — predominantly somatic TSC2 (>80%) or rarely TSC1 in sporadic LAM. TSC-associated LAM has germline TSC mutation. (3) Renal angiomyolipoma (sporadic) — somatic TSC1/TSC2 in ~50%. mTOR inhibitors (everolimus, sirolimus) are approved for multiple TSC/LAM manifestations: - Sirolimus: LAM (MILES 2011; FDA 2015) - Everolimus: SEGA (EXIST-1), renal AML (EXIST-2), TSC-related seizures (EXIST-3); renal cell carcinoma (SRC-BOLERO2-BASELGA-2012 — different indication via PIK3/AKT/mTOR pathway). Note: the BIO entity covers TSC1 specifically; TSC2 mutations are clinically similar but a separate gene — both treated with mTOR inhibitors.

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Pertinence thérapeutique

Maladie

Indication