Related Experiment Video
Updated: Aug 29, 2025
Author Spotlight: Advancing VRL Diagnosis Using Cell-Free DNA Extraction from Vitreous Humor
Published on: January 12, 2024
Circulating cell-free DNA and IL-10 from cerebrospinal fluids aid primary vitreoretinal lymphoma diagnosis
Zhe Zhuang1, Yan Zhang1, Xiao Zhang2
1Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
Insights
Diagnosing primary vitreoretinal lymphoma (PVRL) is challenging. Analyzing cerebrospinal fluid for cell-free DNA mutations like MYD88 L265P and elevated IL-10 levels shows promise for accurate PVRL detection.
Area of Science:
- Ophthalmology
- Oncology
- Genetics
Background:
- Primary vitreoretinal lymphoma (PVRL) is a rare subtype of primary central nervous system lymphoma (PCNSL).
- PVRL diagnosis is often challenging due to its rarity and subtle presentation.
- Biomarkers in cerebrospinal fluid (CSF) may aid in early and accurate diagnosis.
Purpose of the Study:
- To investigate the utility of cell-free DNA (cfDNA) mutations and interleukin-10 (IL-10) levels in CSF for diagnosing PVRL.
- To assess the diagnostic performance of specific mutations, such as MYD88 L265P, and IL-10 in distinguishing PVRL from other conditions.
Main Methods:
- CSF samples were collected from 23 VRL patients and 8 uveitis controls.
- Next-generation sequencing was performed on cfDNA from CSF to identify lymphoma-related mutations.
- CSF IL-10 levels were measured and analyzed for diagnostic accuracy.
Main Results:
- Meaningful lymphoma-related mutations were detected in 73.7% of PVRL patients' CSF cfDNA.
- The MYD88 L265P mutation was identified in 63.2% of VRL patients, showing high specificity (100%).
- Elevated CSF IL-10 levels were found in 95.7% of VRL patients, with 100% specificity.
Conclusions:
- CSF cfDNA analysis detecting mutations like MYD88 L265P can serve as a valuable adjunct in PVRL diagnosis.
- Elevated CSF IL-10 levels are a highly sensitive and specific biomarker for PVRL.
- Combined analysis of cfDNA mutations and IL-10 levels offers a promising strategy for improving PVRL diagnostic accuracy.
Abstract:
Primary vitreoretinal lymphoma (PVRL) is a rare variant of primary central nervous system lymphoma (PCNSL) that presents diagnostic challenges. Here, we focused on circulating cell-free DNA (cfDNA) and interleukin-10 (IL-10) isolated from cerebrospinal fluid. Twenty-three VRL patients (17 PVRL, 2 PCNSL/O, and 4 relapsed VRL, from 10/2018 to 12/2021) and 8 uveitis patients were included in this study. CSF samples from 19 vitreoretinal lymphoma patients had sufficient cfDNA for next-generation sequencing. Of these patients, 73.7% (14/19) had at least one meaningful non-Hodgkin lymphoma-related mutation. The characteristic MYD88 L265P mutation was detected in the CSF of 12 VRL patients, with a sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of 63.2%, 100%, 100%, and 46.2%, respectively. No meaningful lymphoma related mutations were found in CSF samples from uveitis controls with typical intraocular lesions. Meanwhile, CSF IL-10 levels were elevated in 95.7% of the VRL patients, with a sensitivity, specificity, PPV, and NPV of 95.7%, 100%, 100% and 88.9%, respectively. Key somatic mutations like MYD88 L265P and CD79B detected from CSF cfDNA and elevated CSF IL-10 levels can be promising adjuncts for primary vitreoretinal lymphoma diagnosis.
More Related Videos
06:25Author Spotlight: Assessing the Potential of Circulating Tumor Cells in Leptomeningeal Disease Research
Published on: March 29, 2024
08:04Development of an IFN-γ ELISpot Assay to Assess Varicella-Zoster Virus-specific Cell-mediated Immunity Following Umbilical Cord Blood Transplantation
Published on: July 9, 2014