Circulating tumor DNA tracking through driver mutations as a liquid biopsy-based biomarker for uveal melanoma.

ABSTRACT:

Background

Uveal melanoma (UM) is the most common intraocular tumor in adults. Despite good primary tumor control, up to 50% of patients develop metastasis, which is lethal. UM often presents asymptomatically and is usually diagnosed by clinical examination and imaging, making it one of the few cancer types diagnosed without a biopsy. Hence, alternative diagnostic tools are needed. Circulating tumor DNA (ctDNA) has shown potential as a liquid biopsy target for cancer screening and monitoring. The aim of this study was to evaluate the feasibility and clinical utility of ctDNA detection in UM using specific UM gene mutations.

Methods

We used the highly sensitive digital droplet PCR (ddPCR) assay to quantify UM driver mutations (GNAQ, GNA11, PLCβ4 and CYSTLR2) in cell-free DNA

SUBMITTER: Bustamante P 

PROVIDER: S-EPMC8207750 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature