ArticleHaematologica2022
A pilot study of the use of dynamic analysis of cell-free DNA from aqueous humor and vitreous fluid for the diagnosis and treatment monitoring of vitreoretinal lymphomas.
Article in Haematologica, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 31 citations in OpenAlex.
- High-Dose Methotrexate, Ibrutinib, and Temozolomide in the Treatment of Newly Diagnosed Primary CNS Lymphoma: A Multicenter, Prospective Phase II Study.Blood cancer discovery · 2025Trial
- Analysis of cell-free DNA in lymphomas: from sample collection to genotyping and minimal residual disease monitoring.Blood advances · 2026Review
- Efficacy and Safety of Response-Adapted Intravitreal Methotrexate Therapy for Vitreoretinal Lymphoma: A Two-Center Retrospective Cohort Study.Journal of clinical medicine · 2026Article
- [Applications and limitations of liquid biopsy : Applications and methodological limitations of cell-free DNA analysis in tumor diagnostics].Pathologie (Heidelberg, Germany) · 2026Review
- Recent advances in the diagnosis and treatment of refractory ocular inflammatory diseases: focus on uveitic macular edema, acute retinal necrosis, and vitreoretinal lymphoma.Japanese journal of ophthalmology · 2026Review
- Clinical guidelines for the diagnosis and treatment of vitreoretinal lymphoma in Chinese patients (2024).Eye and vision (London, England) · 2025Review
- Circulating tumor DNA in lymphoma: technologies and applications.Journal of hematology & oncology · 2025Review
- Intraocular Lymphoma: A Review.Journal of ophthalmic & vision research · 2025Review
- Advances in primary large B-cell lymphoma of immune-privileged sites.Frontiers in immunology · 2025Review
- Deep sequencing as a diagnostic tool in patients with suspected primary vitreoretinal lymphoma.The British journal of ophthalmology · 2024Article
- Have we truly uncovered the key to primary vitreoretinal lymphoma's pathway to the central nervous system?Haematologica · 2024Article
- Impact of genetic alterations on central nervous system progression of primary vitreoretinal lymphoma.Haematologica · 2024Article
- Molecular Analysis of Liquid Vitreous Biopsy Reveals Occult Lymphoma Following Cytology-Negative Biopsies of the Brain and Vitreous.Ocular immunology and inflammation · 2024Article
- Molecular characterization and biomarker identification in paediatric B-cell acute lymphoblastic leukaemia.Journal of cellular and molecular medicine · 2024Article
- Optimizing ctDNA: An Updated Review of a Promising Clinical Tool for the Management of Uveal Melanoma.Cancers · 2024Review
- Global collaboration of eye research: -personal experience.International journal of ophthalmology · 2024Article
- [Molecular diagnostics for vitreoretinal lymphoma].Pathologie (Heidelberg, Germany) · 2023Review
- Identification of FAT4 as a positive prognostic biomarker in DLBCL by comprehensive genomic analysis.Clinical and experimental medicine · 2023Article
- The 5th Edition of the World Health Organization Classification of Tumours of the Eye and Orbit.Ocular oncology and pathology · 2023Article
- Diagnosis and management of vitreoretinal lymphoma: present and future treatment perspectives.Japanese journal of ophthalmology · 2023Review
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The diagnosis of vitreoretinal lymphoma (VRL), a rare subtype of primary central nervous system lymphoma, is challenging. We aimed to investigate the mutational landscape of VRL by sequencing circulating tumor DNA (ctDNA) from aqueous humor (AH) and/or vitreous fluid (VF), as well as applying ctDNA sequencing to diagnosis and treatment monitoring. Baseline AH and/or VF specimens from 15 VRL patients underwent comprehensive genomic profiling using targeted next-generation sequencing. The molecular profiles of paired baseline AH and VF specimens were highly concordant, with comparable allele frequencies. However, the genetic alterations detected in cerebrospinal fluid ctDNA only partially overlapped with those from simultaneously collected AH/VF samples, with much lower allele frequencies. Serial post-treatment AH or VF samples were available for five patients and their changes in ctDNA allele frequency displayed a similar trend as the changes in interleukin-10 levels; an indicator of response to treatment. A cohort of 23 patients with primary central nervous system lymphoma was included as a comparison group for the genetic landscape and evaluations of the efficacy of ibrutinib. More MYD88 mutations, but fewer IRF4 mutations and CDKN2A/B copy number losses were observed in the baseline samples of primary central nervous system lymphoma than VRL patients. The objective response rate to ibrutinib treatment was much higher for patients with primary central nervous system lymphoma (64.7%, 11/17) than for those with VRL (14.3%, 1/7). In summary, we provide valuable clinical evidence that AH is a good source of tumor genomic information and can substitute VF. Moreover, molecular profiling of AH has clinical utility for the diagnosis of VRL and treatment monitoring.
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