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Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids
Published on: June 8, 2019
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Evaluation of Circulating Tumor DNA as a Liquid Biomarker in Uveal Melanoma
Daniel P de Bruyn1,2,3, Natasha M van Poppelen1,2,3, Tom Brands2
1Department of Ophthalmology, Erasmus MC, Rotterdam, The Netherlands.
Investigative Ophthalmology & Visual Science
|February 6, 2024
Summary
Circulating tumor DNA (ctDNA) levels rise significantly in uveal melanoma (UM) patients with metastases, aiding in detection. This blood-based ctDNA analysis shows promise for copy number variation (CNV) profiling and metastasis monitoring in UM.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Uveal melanoma (UM) is a primary eye cancer with a high risk of metastasis.
- Limited tumor tissue availability hinders molecular characterization, especially after eye-sparing treatments.
- Copy number variations (CNVs) and driver mutations are crucial prognostic factors in UM.
Purpose of the Study:
- To assess the increase in circulating tumor DNA (ctDNA) levels in UM patients.
- To evaluate the efficacy of ctDNA for copy number variation (CNV) profiling in UM.
- To explore ctDNA's role in detecting metastasis and guiding treatment strategies.
Main Methods:
- Pilot study involving 34 UM patients analyzed for ctDNA levels and CNVs.
- Blood samples collected at diagnosis, during radiotherapy, and upon metastasis detection.
- Shallow whole-genome sequencing (sWGS) with in silico size-selection used for CNV identification from ctDNA.
Main Results:
- Detectable ctDNA increased from 38% at diagnosis to 77% with metastatic disease.
- ctDNA levels were significantly higher in patients with metastases (median 24 copies/mL, P < 0.01).
- CNV analysis in metastatic patients (70%) identified chromosome 3 loss, correlating with high metastatic risk.
Conclusions:
- Rising ctDNA levels in metastatic UM patients indicate its utility for CNV profiling.
- ctDNA analysis offers a non-invasive method for metastasis detection in UM.
- This approach may facilitate patient selection for targeted therapies in metastatic UM.
