Mutation Detection for VRL

Study Overview
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Brief Summary
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Vitreoretinal lymphoma (VRL) is a rare but aggressive masquerade syndrome, which would be easily confused with uveitis. The diagnostic gold standard remains the pathologic examination of ocular specimen with invasiveness and low sensitivity. To improve the safety and accuracy of VRL diagnosis, alternative techniques using intraocular fluid (IOF) samples are emerging. In this study, we aimed to test the diagnostic value of mutation analysis for VRL

Detailed Description
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chest CT, urinalysis, kidney, and liver function were routinely checked. IL-10/IL-6 ratio, genetic mutation analysis and samples were IGH gene rearrangements were reviewed and analyzed retrospectively. The diagnoses were identified after careful evaluation of treatment effects in follow-up. The diagnostic value including sensitivity, specificity, positive and negative predictive values, and test efficiency of genetic mutation analysis in diagnosing VRL were analyzed. Furthermore, a validation group of patients including VRL and uveitis was selected to validate the diagnostic value of mutation analysis in the diagnosis of VRL. All the patients signed an informed consent and institutional review board approval was obtained. The study was performed in accordance with the tenets of the Declaration of Helsinki.

Official Title
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The Diagnostic Value of Mutation Detection for VRL

Conditions
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Vitreoretinal Lymphoma, Uveitis

Intervention / Treatment
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* Diagnostic Test: mutation test


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: suspected VRL patients who had intraocular fluid for mutation test. And got a clear diagnose of VRL or uveitis afther having dianostic tests and follow-up treatment Exclusion Criteria: suspected VRL patients who lost in follow-up without a definitive diagnose, or whoever reluctance to participate our study

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 70 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| VRL patients group<br>Presenting clinical features suggestive for VRL with positive finding in laboratory exam | Diagnostic Test: mutation test<br>* detect the tumor-related mutation in introcular fluid<br>|
| uveitis group<br>Even if characterized as clinical features of presumed VRL, no positive laboratory investigations for lymphoma and well response to IMT | Diagnostic Test: mutation test<br>* detect the tumor-related mutation in introcular fluid<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| the result of mutation test | any mutation detect in intraocular fluild recorded as ctDNA+ | at baseline, before treatment | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Vitreoretinal lymphoma, Uveitis, intraocular fluid, mutation