| Presentation preference | Oral presentation |
| Title | Deep Sequencing as a Diagnostic Tool in Vitreoretinal Lymphoma |
| Purpose | The purpose of our study is to compare the results of deep sequencing to that of conventional diagnostic to demonstrate the utility of deep sequencing in the diagnosis of VRL.
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| Methods | Patients requiring vitrectomy for suspicion of VRL from the Emory Eye Center were prospectively enrolled for assessment of vitreous fluid with traditional diagnostics and deep sequencing from September 2017 to June 2022. Deep sequencing was performed on vitreous samples at the Ralph and Sophie Heintz Laboratory at UCSF. |
| Results | Thirteen patients (16 eyes) underwent a diagnostic vitrectomy for VRL (53.8% female, mean age of 67.2 years).
Eight eyes (50%) were diagnosed with VRL based on diagnostic testing and clinical exam. Deep sequencing detected pathogenic mutations associated with lymphoma in 5 eyes (62.5%). The MYD88 mutation was detected by deep sequencing in 3 of these eyes. One patient had vitreous biopsies in both eyes which were negative by deep sequencing but positive on cytopathology for diffuse large B-cell lymphoma (DLBCL). One eye in which deep sequencing and traditional diagnostics was negative, the fellow eye was positive by deep sequencing, cytopathology, flow cytometry, and gene rearrangement for DLBCL.
Eight eyes (50%) were not diagnosed with VRL based on diagnostic testing, medical history, and clinical exam. Six eyes (37.5%) had negative results for lymphoma on deep sequencing and traditional diagnostic tests.
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| Conclusion | Deep sequencing is a promising diagnostic tool for VRL as it can detect lymphoma-associated mutations using a small volume of intraocular fluid in an unbiased manner. Future larger studies are needed to further determine the role deep sequencing will play in the diagnosis of ocular malignancies.
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| Conflict of interest | No |
Authors 1
| Last name | SHANTHA |
| Initials of first name(s) | J |
| Department | UCSF/Proctor Foundation |
| City | San Francisco |
| Country | United States |
Authors 2
| Last name | Choo |
| Initials of first name(s) | C |
| Department | UCSF/Proctor Foundation |
| City | San Francisco |
| Country | United States |
Authors 3
| Last name | Gonzales |
| Initials of first name(s) | J |
| Department | UCSF/Proctor Foundation |
| City | San Francisco |
| Country | United States |
Authors 4
| Last name | Yeh |
| Initials of first name(s) | S |
| Department | Univeristy of Nebraska Medical Center |
| City | Omaha |
| Country | United States |
Authors 5
| Last name | Hinterwirth |
| Initials of first name(s) | A |
| Department | UCSF/Proctor Foundation |
| City | San Francisco |
| Country | United States |
Authors 6
| Last name | Doan |
| Initials of first name(s) | T |
| Department | UCSF/Proctor Foundation |
| City | San Francisco |
| Country | United States |
