Diagnosis and Treatment Monitoring of a Patient with Gastrointestinal Stromal Tumor by Next-Generation Sequencing and Droplet Digital Polymerase Chain Reaction Assay of a PDGFRA Mutation in Plasma-Derived Cell-Free Tumor DNA

Pieter A Boonstra, Arja Ter Elst, Marco Tibbesma, Jourik A Gietema, Ed Schuuring, Anna K L Reyners

OnderzoeksoutputAcademicpeer review

5 Citaten (Scopus)
21 Downloads (Pure)

Samenvatting

In patients with a suspected malignancy, standard-of care management currently includes histopathologic examination and analysis of tumor-specific molecular abnormalities. Herein, we present a 77-year-old patient with an abdominal mass suspected to be a gastrointestinal stromal tumor (GIST) but without the possibility to collect a tumor biopsy. Cell-free DNA extracted from a blood sample was analyzed for the presence of mutations in GIST-specific genes using next generation sequencing. Furthermore, liquid biopsies were used to monitor the levels of mutant DNA copies during treatment with a tumor-specific mutation droplet digital PCR assay that correlated with the clinical and radiological response. Blood-based testing is a good alternative for biopsy-based testing. However, it should only be applied when biopsies are not available or possible to obtain because overall, in only 50%-85% of the cell-free plasma samples is the known tumor mutation detected.

Originele taal-2English
Pagina's (van-tot)e387-e390
Aantal pagina's4
TijdschriftThe Oncologist
Volume24
Nummer van het tijdschrift6
DOI's
StatusPublished - mei-2019

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