Pilot study by liquid biopsy in gastrointestinal stromal tumors: Analysis of PDGFRA D842V mutation and hypermethylation of SEPT9 presence by digital droplet PCR

Last Updated: Thursday, July 25, 2024

This study found that PDGFRA can be detected in GIST tissue down to 0.1 ng/μL using digital droplet PCR, except in early-stage disease, when detection may not be achievable through liquid biopsy. Measures of SEPT9 gene hypermethylation effectively differentiate between healthy subjects and GIST patients, with AUC values of 0.74, 0.77, and 0.79.

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