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

Autor:	Cabezas-Camarero S; Medical Oncology Department, Instituto de Investigación Sanitaria San Carlos (IdISSC), Hospital Clínico Universitario San Carlos, Madrid, Spain., García-Barberán V; Molecular Oncology Laboratory, Medical Oncology Department, Instituto de Investigación Sanitaria San Carlos (IdISSC), Hospital Clínico Universitario San Carlos, Madrid, Spain., Pérez-Alfayate R; Neurosurgery Department, Hospital Clínico Universitario San Carlos, Madrid, Spain., Gómez Del Pulgar ME; Molecular Oncology Laboratory, Medical Oncology Department, Instituto de Investigación Sanitaria San Carlos (IdISSC), Hospital Clínico Universitario San Carlos, Madrid, Spain., Cabrera-Martin MN; Nuclear Medicine Department, Instituto de Investigación Sanitaria San Carlos (IdISSC), Hospital Clínico Universitario San Carlos, Madrid, Spain., Casado-Fariñas I; Pathology Department, Hospital Clínico Universitario San Carlos, Madrid, Spain., Pérez-Segura P; Medical Oncology Department, Instituto de Investigación Sanitaria San Carlos (IdISSC), Hospital Clínico Universitario San Carlos, Madrid, Spain.
Jazyk:	angličtina
Zdroj:	The oncologist [Oncologist] 2024 May 03; Vol. 29 (5), pp. 377-383.
DOI:	10.1093/oncolo/oyae026
Abstrakt:	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 oncogene-addicted solid tumors, detection of the corresponding drivers through liquid biopsy could aid in the molecular diagnosis and monitoring of the disease through less invasive procedures. However, most studies have only evaluated cerebrospinal fluid as the ctDNA reservoir, and very limited evidence exists on the role of liquid biopsy in plasma in patients with primary central nervous system tumors, including MB. 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. (© The Author(s) 2024. Published by Oxford University Press.)
Databáze:	MEDLINE
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