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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
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| VRL patients group | Presenting clinical features suggestive for VRL with positive finding in laboratory exam |
| |
| uveitis group | Even if characterized as clinical features of presumed VRL, no positive laboratory investigations for lymphoma and well response to IMT |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| mutation test | Diagnostic Test | detect the tumor-related mutation in introcular fluid |
|
| Measure | Description | Time Frame |
|---|---|---|
| the result of mutation test | any mutation detect in intraocular fluild recorded as ctDNA+ | at baseline, before treatment |
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Inclusion Criteria:
Exclusion Criteria:
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suspected VRL or uveitis patients attending to our clinic
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| Name | Affiliation | Role |
|---|---|---|
| Dan D Liang, PhD | Zhongshan Ophthalmic Center, Sun Yat-sen University | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Zhongshan Ophthalmic Center, Sun Yat-sen University | Guangzhou | Guangdong | 510060 | China |
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| ID | Term |
|---|---|
| D064090 | Intraocular Lymphoma |
| D014605 | Uveitis |
| ID | Term |
|---|---|
| D008223 | Lymphoma |
| D009370 | Neoplasms by Histologic Type |
| D009369 | Neoplasms |
| D005134 | Eye Neoplasms |
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Combined ocular manifestations with the results of pathology, IL-10/IL-6 ratio, IGH gene rearrangements and patients' response to treatments, patients abtained clear diagnosis
| D009371 |
| Neoplasms by Site |
| D008232 | Lymphoproliferative Disorders |
| D008206 | Lymphatic Diseases |
| D006425 | Hemic and Lymphatic Diseases |
| D007160 | Immunoproliferative Disorders |
| D007154 | Immune System Diseases |
| D014603 | Uveal Diseases |
| D005128 | Eye Diseases |