Hiemcke-Jiwa LS, et al. - Researchers gauged whether or not the detection of myeloid differentiation primary response gene 88 (MYD88) L265P by highly sensitive droplet digital polymerase chain reaction (ddPCR) is feasible in the vitreous fluid and aqueous humor of patients with vitreoretinal lymphoma (VRL). In the identification of key somatic mutations in patients with VRL, the use of the easily accessible aqueous humor is nearly as informative as vitreous fluid; as suggested by the high concordance between aqueous humor and vitreous fluid samples. For accurate diagnosis, detection of recurrence, and monitoring of treatment, an additional minimally invasive tool could be provided by this approach.

Methods

• In this cohort study authors included aqueous humor and vitreous fluid samples from patients with VRL who were treated at the University Medical Center Utrecht, in Utrecht, the Netherlands, from August 2005 to August 2017.
• They randomized and masked the ocular fluids before MYD88 L265P analysis, which was performed using an in-house validated ddPCR platform.
• They included the patients with uveitis as a comparison group.
• The main outcomes and measures included the presence of MYD88 L265P mutation detected by ddPCR in AH and VF.

Results

• Findings suggested that the study included 96 samples from 63 individuals, including 23 patients with VRL (of whom 10 were female and 13 male, with a mean [SD] age of 72 [7.3] years) and 40 individuals with uveitis (of whom 23 were female and 17 male, with a mean [SD] age of 58 [20.9] years).
• As per data, in 17 of 23 patients with VRL (74%), MYD88 L265P was detected; it was not detected in any of the patients with uveitis.
• In both vitreous fluid and aqueous humor samples, it was detectable.
• Results demonstrated that in the paired samples, they detected mutation in 8 of 9 aqueous humor samples (89%) of the MYD88 L265P–positive vitreous fluid samples.
• In vitreous fluid, a sensitivity of 75% (95% CI, 50%-92%) and a positive predictive value of 100% was demonstrated by the MYD88 ddPCR test; in aqueous humor, sensitivity was 67% (95% CI, 42%-92%), and positive predictive value was 100%.
• In both fluids, specificity was 100%.
• Experts noted that in any ocular fluids, the mutation was no longer detectable after treatment.