Aqueous Humor Biomarkers May Be Diagnostic for Vitreoretinal Lymphoma

Women scientist research and looking microscope in a laboratory
Female Scientist researcher using microscope in laboratory. Medical healthcare technology and pharmaceutical research and development concept.
Researchers evaluate the use of the L265P mutation in the MYD88 gene as a diagnostic tool for vitreoretinal lymphoma.

This article is part of Ophthalmology Advisor’s Focus on Retina coverage from the 2021 meeting of the American Academy of Ophthalmology, held in New Orleans from November 12 to 15, 2021. The team at Ophthalmology Advisor will be reporting on a variety of the research presented by the retinal experts at the AAO. Check back for more from the AAO 2021 Meeting.


Researchers may have uncovered an alternative liquid biopsy approach to aid in the diagnosis of vitreoretinal lymphoma, according to data from an investigational study presented at the American Academy of Ophthalmology 2021 meeting in New Orleans, held from November 12-15.

The investigators set out to determine if L265P, a mutation in the MYD88 that is often present in vitreoretinal lymphoma, could be detected in aqueous humor-derived (AHD) and cell-free DNA (cfDNA). The study consisted of 7 eyes of 6 patients with biopsy-confirmed vitreoretinal lymphoma, and 4 patients with biopsy-confirmed vitritis. AHD MYD88 L265P was not identified in any of the eyes diagnosed with vitritis, but was detectable in 84% of eyes with lymphoma. Out of the 7 eyes with vitreoretinal lymphoma, cfDNA was analyzed in 4 eyes while cellular DNA was analyzed in 3 eyes. The L265P mutation was detected in all 4 cfDNA samples and in 2 out of 3 cellular DNA samples.

After complete response in 2 eyes after treatment, aqueous sampling did not detect the presence of the mutation but was sensitive enough to detect the continued presence of the mutant allele in 1 eye that failed to respond to therapy. 

“This investigational study suggests that AHD MYD88 L265P can be detected in eyes with vitreoretinal lymphoma and may thus serve as a surrogate liquid biopsy in the diagnosis and follow-up,” the presenters concluded.

Visit Ophthalmology Advisor’s conference section for the complete Focus on Retina coverage from the AAO 2021.



Demirci H, Rao RC, Elner VM. Potential of aqueous humor-derived MYD88 L265P mutation analysis in vitreoretinal lymphoma. Paper presented at: The American Academy of Ophthalmology 2021 Annual Meeting; November 12-15, 2021; New Orleans. Abstract PA055.