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- Title
Plasma ctDNA Monitoring of a PTCH1-Mutant Metastatic Adult Medulloblastoma Showing a Durable Benefit With Vismodegib.
- Authors
Cabezas-Camarero, Santiago; García-Barberán, Vanesa; Pérez-Alfayate, Rebeca; Pulgar, María Elena Gómez del; Cabrera-Martin, Maria Nieves; Casado-Fariñas, Isabel; Pérez-Segura, Pedro
- Abstract
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.
- Subjects
NEW South Wales; CEREBROSPINAL fluid examination; INTUITION; GLIOMAS; PROMPTS (Psychology); ENZYME inhibitors; RARE diseases; POLYMERASE chain reaction; INTERVIEWING; TREATMENT effectiveness; BODY fluid examination; DECISION making in clinical medicine; EMOTIONS; NUCLEIC acids; BUSINESS networks; RESEARCH methodology; DISEASE relapse; EXTRACELLULAR space; GENETIC mutation; SEQUENCE analysis; BLOOD; SYMPTOMS
- Publication
Oncologist, 2024, Vol 29, Issue 5, p377
- ISSN
1083-7159
- Publication type
Article
- DOI
10.1093/oncolo/oyae026