Early detection of metastatic uveal melanoma by the analysis of tumor-specific mutations in cell-free plasma DNA.

ABSTRACT:

Background

Eye salvaging therapy of malignant melanomas of the uvea can preserve the eye in most cases, but still about half of patients die from metastatic disease. Previous analyses of cell-free DNA from plasma had shown detectable levels of tumor-specific GNAQ/GNA11 mutations in patients with the clinical diagnosis of progressive disease. However, data on the time span that elapses from the detection of ctDNA in plasma to the clinical detection of metastases (diagnostic lead time) are missing.

Methods

We examined 135 patients with uveal melanoma. Cell-free DNA was isolated from a total of 807 blood samples which were taken over a period of up to 41 months and analyzed for the presence of GNAQ/GNA11 mutations by deep amplicon sequencing.

Results

Twenty-one of the 13

SUBMITTER: Le Guin CHD 

PROVIDER: S-EPMC8419753 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature