Release of Cell-Free Tumor DNA in the Plasma of Uveal Melanoma Patients Under Radiotherapy.

Autor:	Kim V; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Department of Ophthalmology, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Guberina M; Department of Radiotherapy, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Bechrakis NE; Department of Ophthalmology, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Lohmann DR; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Zeschnigk M; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Le Guin CHD; Department of Ophthalmology, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
Jazyk:	angličtina
Zdroj:	Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2023 Oct 03; Vol. 64 (13), pp. 35.
DOI:	10.1167/iovs.64.13.35
Abstrakt:	Purpose: Uveal melanoma (UM) is a tumor of the eye that metastasizes in approximately half of cases. Prognostic testing requires accessibility to tumor tissue, which is usually not available with eye-preserving therapies. Noninvasive approaches to prognostic testing that provide valuable information for patient care are therefore needed. The aim of this study was to evaluate the use of circulating cell-free plasma DNA analysis in UM patients undergoing brachytherapy. Methods: The study recruited 26 uveal melanoma patients referred to the department between February and October 2020. Blood samples were collected at various time points before, during, and after treatment, and deep amplicon sequencing was used to identify oncogenic variant alleles of the GNAQ and GNA11 genes, which serve as indicators for the presence of circulating tumor DNA (ctDNA). Results: The results showed that all patients were ctDNA negative before brachytherapy. In 31% of patients, ctDNA was detected during therapy. The variant allele fraction of GNAQ or GNA11 alleles in ctDNA positive samples ranged from 0.24% to 2% and correlates with the largest basal diameter and thickness of the tumor. Conclusions: The findings suggest that brachytherapy increases the presence of tumor DNA in the plasma of UM patients. Thus ctDNA analysis may offer a noninvasive approach for prognostic testing. However, efforts are still required to lower the limit of detection for tumor-specific genetic alterations.
Databáze:	MEDLINE
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