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Ester Carreno, Timothy Clench, Laura R Steeples, Serena Salvatore, Richard W. J. Lee, Andrew D Dick, Joya Pawade; Clinical spectrum of vitreoretinal lymphoma and its association with MyD88 L265P mutation. Invest. Ophthalmol. Vis. Sci. 2018;59(9):5578.
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© ARVO (1962-2015); The Authors (2016-present)
To evaluate the utility of testing for the MyD88 L265P mutation as an aid to the diagnosis of B-cell vitreoretinal lymphoma (VRL).
Vitreous and chorioretinal biopsies from patients diagnosed with VRL (either primary VRL (PVRL), or secondary to primary central nervous system lymphoma (PCNSL) or systemic lymphoma (SL)) were analyzed retrospectively for the presence of the MyD88 L265P mutation. Data regarding clinical presentation and behavior were also collected.
Eighteen patients (14 females; 4 males) were included for analysis. The mean age at diagnosis of VRL was 71.5 years and the MyD88 L265P mutation was found in 14 of the 18 patients (5/6 in the PCNSL group, 6/7 in the PVRL group and 3/5 in the SL group). The MyD88 L265P mutation was also positive in the inconclusive biopsy in 3 cases, with retrospective histological confirmation in a second biopsy. Equally, the mutation aided in the diagnosis of a patient with a very early intraocular recurrence. In the SL group, the MyD88 L265P mutation was restricted to extranodal lymphomas from the testis and skin. The mean estimated overall survival in this cohort with variable duration of follow-up was 28.5 months (95% Confidence interval: 17.2-39.6 months). From the group with PVRL, 4 patients subsequently developed central nervous system involvement (CNS) during follow-up (the mean time for the diagnosis of CNS involvement in these 4 cases was 14.5 ± 9.9 months (mean ± SD). The 3 patients diagnosed with PVRL who did not have CNS involvement had a shorter duration of follow-up (mean: 2 months, range: 1-3 months) from diagnosis.
These data confirm the association between the presence of the MyD88 L265P mutation and VRL, in the evaluation and confirmation of early disease when the sensitivity of traditional cytology is low.
This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.
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