ArticleRetinal cases & brief reports2025
PLASMA CIRCULATING TUMOR DNA TO ASSIST IN THE DIAGNOSIS OF UNKNOWN PRIMARY MALIGNANCY UNDERLYING CHOROIDAL METASTASES.
Article in Retinal cases & brief reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
1 citing paper in PubMed, 2 citations in OpenAlex.
- Blood-Based Cell-Free DNA in Ophthalmic Oncology.Translational vision science & technology · 2025Review
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
purposeManagement of suspected choroidal metastases requires diagnostic imaging and an invasive, sometimes intraocular, biopsy to determine the primary malignancy. This multistep process takes time, which may affect morbidity and mortality.
methodsThis was a retrospective review of one case.
resultsA 56-year-old woman presented with bilateral amelanotic choroidal masses suspicious for metastases of unknown origin. Plasma circulating tumor DNA revealed EGFR , PTEN , and SMAD4 , a profile consistent with non-small-cell lung cancer. Subsequent radiographic imaging and scapular biopsy revealed lung adenocarcinoma and genetic profile concordant with the liquid biopsy. The patient was started on EGFR inhibitor, osimertinib, with measurable systemic and ocular response.
conclusionPlasma circulating tumor DNA revealed the genetic profile of the primary malignancy underlying choroidal metastases of unknown origin, aiding in the prompt diagnosis and detecting the driver mutation that guided management with targeted therapy.
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