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Comprehensive Laboratory Diagnostic Workup for Patients with Suspected Intraocular Lymphoma including Flow Cytometry,
Evgenii Shumilov1,2, Paolo Mazzeo3, Martin S Zinkernagel4
1Department of Hematology and Central Hematology Laboratory, Inselspital, Bern University Hospital, University of Bern, 3012 Bern, Switzerland.
Insights
Flow cytometry (FC) significantly improves intraocular lymphoma (IOL) diagnosis over cytopathology alone. Combining FC with molecular genetics offers a superior diagnostic approach for suspected IOL.
Area of Science:
- Ophthalmology
- Hematology
- Oncology
Background:
- Intraocular lymphoma (IOL) poses diagnostic challenges.
- Cytopathology of vitreous samples has limitations, often yielding false negatives.
Purpose of the Study:
- To evaluate the diagnostic value of flow cytometry (FC) in the workup of IOL.
- To compare FC sensitivity with cytopathology and molecular genetics.
Main Methods:
- Seven patients with suspected IOL underwent vitrectomy.
- Samples were analyzed by FC, cytopathology, and digital droplet PCR (ddPCR) for MYD88 L265P mutation.
Main Results:
- Four of seven patients were diagnosed with IOL.
- FC correctly identified all four IOL cases, while cytopathology only identified two.
- FC also correctly ruled out IOL in negative cases.
- MYD88 L265P mutation confirmed IOL in all tested positive cases.
Conclusions:
- FC is more sensitive than cytopathology alone for diagnosing IOL.
- FC results correlated well with molecular genetics findings.
- A comprehensive panel including cytopathology, FC, and molecular genetics is recommended for suspected IOL.
Background:
Intraocular lymphoma (IOL) presents a real challenge in daily diagnostics. Cyto- and/or histopathology of vitreous body represent the diagnostic cornerstones. Yet, false negative results remain common. Therefore, we analyzed the diagnostic significance of flow cytometry (FC) within the workup algorithm of IOL and compared its sensitivity with the results obtained from routine cytopathology and molecular genetics; Methods: Seven patients undergoing vitrectomy due to suspected IOL were investigated by FC and parallel cytopathology and, if available, digital droplet PCR (ddPCR) for MYD88 L265P; Results: Four out of seven patients were finally diagnosed with IOL. Among the IOL patients, cytopathology confirmed the presence of lymphoma cells in only two cases. In contrast, FC was positive for IOL in all four cases, and FC additionally confirmed the lack of IOL in the remaining patients. In IOL patients diagnosed by FC and with available ddPCR, the diagnosis of IOL was confirmed by the presence of the MYD88 L265P mutation in all three patients; Conclusions: The combination with FC was superior to cytopathology alone in the diagnostic work-up of IOL, and it showed an excellent correlation with ddPCR results. A comprehensive diagnostic panel consisting of cytopathology, FC and molecular genetics should be considered for the work-up of suspected IOL.
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