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

We present the case of a 26-year-old patient with a recurrent MB, in which next-generation sequencing (FoundationOne CDx) revealed a mutation in PTCH1, allowing the patient to be treated with vismodegib in second line, resulting in a durable benefit lasting for 1 year. Using an in-house digital PCR probe, the PTCH1 mutation could be tracked in ctDNA during treatment with first-line chemotherapy and while on treatment with vismodegib, demonstrating a precise correlation with the radiological and clinical behavior of the disease.PMID:38438322 | DOI:10.1093/oncolo/oyae026

Source: The Oncologist - March 4, 2024 Category: Cancer & Oncology Authors: Santiago Cabezas-Camarero Vanesa Garc ía-Barberán Rebeca P érez-Alfayate Mar ía Elena Gómez Del Pulgar Maria Nieves Cabrera-Martin Isabel Casado-Fari ñas Pedro P érez-Segura Source Type: research