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Transformation par perte de fonction du PTCH1 (Patched-1)

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IDBIO-PTCH1
TypeBiomarqueur
Alias
mutation PTCH1Втрата функції PTCH1 (Patched-1)
Étatreviewed 2026-05-04 | pending_clinical_signoff
MaladiesDIS-BCC
SourcesSRC-NCCN-SKIN-2025

Données biomarqueurs

Type de biomarqueurgene_mutation
Détails de la mutation{"exon": "multiple", "functional_impact":"perte de fonction", "gene": «PTCH1", "variant_type":", "perte d'une fonction (décalage, absurdité, éclaboussure, inactivation de mal sens)"}
Mesure
MéthodeTumor NGS panel; germline testing for Gorlin syndrome (pathogenic PTCH1 variant in blood)
Recherche de la faisabilité{"gene": "PTCH1", "variant": "loss_of_function"}
Biomarqueurs connexesBIO-SMO

Notes

PTCH1 (Patched-1) is the primary tumor suppressor in the Hedgehog (HH) pathway. It normally inhibits SMO by sequestering it; when HH ligand (SHH, DHH, IHH) binds PTCH1, this inhibition is released, allowing SMO to activate GLI1/2 transcription factors. Somatic PTCH1 loss is the dominant driver of sporadic BCC (~90%). Germline PTCH1 mutation causes Gorlin syndrome (Basal Cell Nevus Syndrome): multiple BCCs from early adulthood, odontogenic keratocysts, skeletal anomalies, calcified falx cerebri, and markedly increased medulloblastoma risk (SHH-subtype, predominantly desmoplastic, in childhood). Gorlin syndrome patients are exquisitely sensitive to ionizing radiation (radiation-induced BCCs within field); radiation therapy is relatively contraindicated for BCC treatment in Gorlin patients. Therapeutic implication: loss of PTCH1 in BCC justifies hedgehog inhibitor (vismodegib/sonidegib) for locally advanced/metastatic disease — routine tumor PTCH1 testing is not required because HH pathway activation is universal in BCC.

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Pertinence thérapeutique

Biomarqueur

Maladie

Indication