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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.

International journal of molecular sciences - 20 Jun 2024

Olivera-Salazar Rocío, Salcedo Cabañas Gabriel, Vega-Clemente Luz, Alonso-Martín David, Castellano Megías Víctor Manuel, Volward Peter, García-Olmo Damián, García-Arranz Mariano

Abstract excerpt

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...

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Identifiers

PMID: 38928487
DOI: 10.3390/ijms25126783
PMCID: PMC11203410

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