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Pilot Study by Liquid Biopsy in Gastrointestinal Stromal Tumors: Analysis of PDGFRA D842V Mutation and Hypermethylation of SEPT9 Presence by Digital Droplet PCR.
- Source :
-
International journal of molecular sciences [Int J Mol Sci] 2024 Jun 20; Vol. 25 (12). Date of Electronic Publication: 2024 Jun 20. - Publication Year :
- 2024
-
Abstract
- Tissue biopsy remains the standard for diagnosing gastrointestinal stromal tumors (GISTs), although liquid biopsy is emerging as a promising alternative in oncology. In this pilot study, we advocate for droplet digital PCR (ddPCR) to diagnose GIST in tissue samples and explore its potential for early diagnosis via liquid biopsy, focusing on the PDGFRA D842V mutation and SEPT9 hypermethylated gene. We utilized ddPCR to analyze the predominant PDGFRA mutation (D842V) in surgical tissue samples from 15 GIST patients, correlating with pathologists' diagnoses. We expanded our analysis to plasma samples to compare DNA alterations between tumor tissue and plasma, also investigating SEPT9 gene hypermethylation. We successfully detected the PDGFRA D842V mutation in GIST tissues by ddPCR. Despite various protocols to enhance mutation detection in early-stage disease, it remained challenging, likely due to the low concentration of DNA in plasma samples. Additionally, the results of Area Under the Curve (AUC) for the hypermethylated SEPT9 gene, analyzing concentration, ratio, and abundance were 0.74 (95% Confidence Interval (CI): 0.52 to 0.97), 0.77 (95% CI: 0.56 to 0.98), and 0.79 (95% CI: 0.59 to 0.99), respectively. As a rare disease, the early detection of GIST through such biomarkers is particularly crucial, offering significant potential to improve patient outcomes.
- Subjects :
- Humans
Liquid Biopsy methods
Pilot Projects
Female
Male
Middle Aged
Aged
Gastrointestinal Neoplasms genetics
Gastrointestinal Neoplasms pathology
Biomarkers, Tumor genetics
Adult
Septins genetics
Gastrointestinal Stromal Tumors genetics
Gastrointestinal Stromal Tumors pathology
DNA Methylation genetics
Receptor, Platelet-Derived Growth Factor alpha genetics
Mutation
Polymerase Chain Reaction methods
Subjects
Details
- Language :
- English
- ISSN :
- 1422-0067
- Volume :
- 25
- Issue :
- 12
- Database :
- MEDLINE
- Journal :
- International journal of molecular sciences
- Publication Type :
- Academic Journal
- Accession number :
- 38928487
- Full Text :
- https://doi.org/10.3390/ijms25126783