@article {91, title = {Primary vitreoretinal lymphoma: empowering our clinical suspicion.}, journal = {Curr Opin Ophthalmol}, volume = {30}, year = {2019}, month = {2019 Nov}, pages = {491-499}, abstract = {

PURPOSE OF REVIEW: Vitreoretinal lymphoma (VRL) is well known as a masquerade syndrome. However, delays in diagnosis are common particularly because of the small volume of tissue that is used for investigative studies. We outline the current diagnostic tests available to clinicians and provide a glimpse of possible future novel diagnostics.

RECENT FINDINGS: The use of spectral domain ocular coherence tomography to identify subretinal lesions has proven to be a reliable ally to clinicians. Nevertheless, the diagnostic gold standard remains cytology, which requires a skilled pathologist. Molecular tests, including MYD88 polymerase chain reaction testing has further refined our diagnostic capabilities. Metagenomic deep sequencing is a newer molecular test that offers the ability to identify any mutation associated with lymphoma development and may offer more sensitive testing in the future.

SUMMARY: Clinicians have developed a strong acumen for suspecting VRL based upon clinical features, which can further be supported by a variety of imaging modalities. Delays in diagnosis continue to occur particularly because of the small volume of ocular fluid available for testing and because current tests offer a biased approach in terms of limited scope of detecting a specific mutation or cytopathologic feature(s). Newer molecular techniques feature an expanded scope of detecting any mutation associated with lymphomatous development.

}, keywords = {Eye Neoplasms, Humans, Intraocular Lymphoma, Molecular Diagnostic Techniques, Myeloid Differentiation Factor 88, Retinal Neoplasms, Vitreous Body}, issn = {1531-7021}, doi = {10.1097/ICU.0000000000000620}, author = {Takhar, Jaskirat S and Thuy A Doan and Gonzales, John A} } @article {251, title = {Metagenomic deep sequencing of aqueous fluid detects intraocular lymphomas.}, journal = {Br J Ophthalmol}, volume = {102}, year = {2018}, month = {2018 01}, pages = {6-8}, abstract = {

INTRODUCTION: Currently, the detection of pathogens or mutations associated with intraocular lymphomas heavily relies on prespecified, directed PCRs. With metagenomic deep sequencing (MDS), an unbiased high-throughput sequencing approach, all pathogens as well as all mutations present in the host{\textquoteright}s genome can be detected in the same small amount of ocular fluid.

METHODS: In this cross-sectional case series, aqueous fluid samples from two patients were submitted to MDS to identify pathogens as well as common and rare cancer mutations.

RESULTS: MDS of aqueous fluid from the first patient with vitreal lymphoma revealed the presence of both Epstein-Barr virus (HHV-4/EBV) and human herpes virus 8 (HHV-8) RNA. Aqueous fluid from the second patient with intraocular B-cell lymphoma demonstrated a less common mutation in the gene associated with B-cell lymphoma.

CONCLUSION: MDS detects pathogens that, in some instances, may drive the development of intraocular lymphomas. Moreover, MDS is able to identify both common and rare mutations associated with lymphomas.

}, keywords = {Adult, Aqueous Humor, Biomarkers, Tumor, Cross-Sectional Studies, DNA Mutational Analysis, DNA, Neoplasm, Female, High-Throughput Nucleotide Sequencing, Humans, In Situ Hybridization, Intraocular Lymphoma, Lymphoma, B-Cell, Male, Middle Aged, Mutation, Myeloid Differentiation Factor 88}, issn = {1468-2079}, doi = {10.1136/bjophthalmol-2017-311151}, author = {Gonzales, John and Doan, Thuy and Shantha, Jessica G and Bloomer, Michele and Wilson, Michael R and DeRisi, Joseph L and Acharya, Nisha} }