ArticleBlood advances2022
The molecular hallmarks of primary and secondary vitreoretinal lymphoma.
Article in Blood advances, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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Who cites it
42 citing papers in PubMed, 54 citations in OpenAlex.
- Penpulimab combined with rituximab, high-dose methotrexate, and cytarabine (Pen-RMA) in newly diagnosed primary central nervous system lymphoma (PCNSL): a phase 2 trial.Blood cancer journal · 2026Trial
- Prospective phase II trial of first-line rituximab, methotrexate, and orelabrutinib (R-MO) in primary central nervous system lymphoma.Blood cancer journal · 2025Trial
- Beyond MYD88-only testing: MYD88/CD79B profiling improves molecular detection and MCD genotyping in VRL and CNS lymphomas.Experimental hematology & oncology · 2026Article
- Decoding IGLL5 Mutation-Mediated BCR Signaling: A Novel Mechanism of CD8Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- [Applications and limitations of liquid biopsy : Applications and methodological limitations of cell-free DNA analysis in tumor diagnostics].Pathologie (Heidelberg, Germany) · 2026Review
- Retinal vasculitis as a presenting sign of Epstein-Barr virus positive diffuse large B-cell lymphoma: a case report.BMC ophthalmology · 2026Article
- Ocular Manifestations Associated with Hematologic Malignancies: Mechanisms, Diagnosis, and Management.Medical sciences (Basel, Switzerland) · 2026Review
- Cytologic Diagnosis of Large B-Cell Lymphoma: Diagnostic Approach and Differential Diagnosis.Acta cytologica · 2026Review
- Case Report: Longitudinal analysis of local immunoregulatory mediators in a DLBCL vitreoretinal lymphoma receiving local chemotherapy.Frontiers in medicine · 2026Article
- 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
- [The DECODE VRL study-Multicenter implementation and clinical validation of standardized innovative molecular biological diagnostics for vitreoretinal lymphoma].Die Ophthalmologie · 2025Article
- [Masked threat: primary vitreoretinal lymphoma (PVRL)].Die Ophthalmologie · 2025Article
- Prognostic gene expression and microRNA profiling signatures and genetic alterations in primary testicular diffuse large B-cell lymphoma.Blood cancer journal · 2025Article
- Clinical guidelines for the diagnosis and treatment of vitreoretinal lymphoma in Chinese patients (2024).Eye and vision (London, England) · 2025Review
- TBL1XR1 Promotes Coronary Artery Disease by Regulating Triglyceride Metabolism via the PPAR Pathway.Cardiology research and practice · 2025Article
- Advances in primary large B-cell lymphoma of immune-privileged sites.Frontiers in immunology · 2025Review
- Review
- [The concept of the liquid biopsy in the treatment of malignant eye tumours].Die Ophthalmologie · 2024Review
- Clinical characteristics and prognosis of patients with newly diagnosed primary central nervous system lymphoma: a multicentre retrospective analysis.Annals of hematology · 2024Article
- Impact of genetic alterations on central nervous system progression of primary vitreoretinal lymphoma.Haematologica · 2024Article
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Authors and funding
16 authors at 7 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Vitreoretinal lymphoma (VRL) is a rare subtype of diffuse large B-cell lymphoma (DLBCL) considered a variant of primary central nervous system lymphoma (PCNSL). The diagnosis of VRL requires examination of vitreous fluid, but cytologic differentiation from uveitis remains difficult. Because of its rarity and the difficulty in obtaining diagnostic material, little is known about the genetic profile of VRL. The purpose of our study was to investigate the mutational profile of a large series of primary and secondary VRL. Targeted next-generation sequencing using a custom panel containing the most frequent mutations in PCNSL was performed on 34 vitrectomy samples from 31 patients with VRL and negative controls with uveitis. In a subset of cases, genome-wide copy number alterations (CNAs) were assessed using the OncoScan platform. Mutations in MYD88 (74%), PIM1 (71%), CD79B (55%), IGLL5 (52%), TBL1XR1 (48%), ETV6 (45%), and 9p21/CDKN2A deletions (75%) were the most common alterations, with similar frequencies in primary (n = 16), synchronous (n = 3), or secondary (n = 12) VRL. This mutational spectrum is similar to MYD88mut/CD79Bmut (MCD or cluster 5) DLBCL with activation of Toll-like and B-cell receptor pathways and CDKN2A loss, confirming their close relationship. OncoScan analysis demonstrated a high number of CNAs (mean 18.6 per case). Negative controls lacked mutations or CNAs. Using cell-free DNA of vitreous fluid supernatant, mutations present in cellular DNA were reliably detected in all cases examined. Mutational analysis is a highly sensitive and specific tool for the diagnosis of VRL and can also be applied successfully to cell-free DNA derived from the vitreous.
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