Title | Metagenomic deep sequencing of aqueous fluid detects intraocular lymphomas. |
Publication Type | Journal Article |
Year of Publication | 2018 |
Authors | Gonzales J, Doan T, Shantha JG, Bloomer M, Wilson MR, DeRisi JL, Acharya N |
Journal | Br J Ophthalmol |
Volume | 102 |
Issue | 1 |
Pagination | 6-8 |
Date Published | 2018 01 |
ISSN | 1468-2079 |
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 |
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'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. |
DOI | 10.1136/bjophthalmol-2017-311151 |
Alternate Journal | Br J Ophthalmol |
PubMed ID | 29122821 |
PubMed Central ID | PMC5754869 |
Grant List | K08 EY026986 / EY / NEI NIH HHS / United States K08 NS096117 / NS / NINDS NIH HHS / United States K12 HD085850 / HD / NICHD NIH HHS / United States |