@article{206,
  keywords = {Humans, Adult, Female, Male, Middle Aged, High-Throughput Nucleotide Sequencing, Intraocular Lymphoma, Myeloid Differentiation Factor 88, Cross-Sectional Studies, Aqueous Humor, Biomarkers, Tumor, DNA Mutational Analysis, DNA, Neoplasm, In Situ Hybridization, Lymphoma, B-Cell, Mutation},
  author = {John Gonzales and Thuy Doan and Jessica Shantha and Michele Bloomer and Michael Wilson and Joseph DeRisi and Nisha Acharya},
  title = {Metagenomic deep sequencing of aqueous fluid detects intraocular lymphomas.},
  abstract = {<p><b>INTRODUCTION: </b>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's genome can be detected in the same small amount of ocular fluid.</p>

<p><b>METHODS: </b>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.</p>

<p><b>RESULTS: </b>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.</p>

<p><b>CONCLUSION: </b>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.</p>
},
  year = {2018},
  journal = {Br J Ophthalmol},
  volume = {102},
  pages = {6-8},
  month = {2018 01},
  issn = {1468-2079},
  doi = {10.1136/bjophthalmol-2017-311151},
  language = {eng},
}