RT Journal Article
SR Electronic
T1 Metagenomic deep sequencing of aqueous fluid detects intraocular lymphomas
JF British Journal of Ophthalmology
JO Br J Ophthalmol
FD BMJ Publishing Group Ltd.
SP bjophthalmol-2017-311151
DO 10.1136/bjophthalmol-2017-311151
A1 John Gonzales
A1 Thuy Doan
A1 Jessica G Shantha
A1 Michele Bloomer
A1 Michael R Wilson
A1 Joseph L DeRisi
A1 Nisha Acharya
YR 2017
UL http://bjo.bmj.com/content/early/2017/11/09/bjophthalmol-2017-311151.abstract
AB 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 MYD88 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.