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Plasma ctDNA Monitoring of a PTCH1-Mutant Metastatic Adult Medulloblastoma Showing a Durable Benefit With Vismodegib.

The oncologist - 3 May 2024

Cabezas-Camarero Santiago, García-Barberán Vanesa, Pérez-Alfayate Rebeca, Gómez Del Pulgar María Elena, Cabrera-Martin Maria Nieves, Casado-Fariñas Isabel, Pérez-Segura Pedro

Abstract excerpt

Adult medulloblastoma (MB) is a rare disease affecting 0.6 persons per million adults over 19 years of age. The SHH-activated/TP53-wild type is the most common subtype, accounting for 60% of adult MBs, being characterized by mutations in PTCH1, SMO, or the TERT promoter. Several small studies demonstrate objective but short-lived responses to SMO inhibitors such as vismodegib or sonidegib. Like other...

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Source

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Identifiers

PMID: 38438322
DOI: 10.1093/oncolo/oyae026
PMCID: PMC11067790

Genes

PTCH1
MB
SMO
SHH
TERT
TP53

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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