Metagenomic deep sequencing of aqueous fluid detects intraocular lymphomas

Br J Ophthalmol. 2018 Jan;102(1):6-8. doi: 10.1136/bjophthalmol-2017-311151. Epub 2017 Nov 9.

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 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.

Keywords: aqueous humour; immunology; infection; inflammation.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, N.I.H., Extramural

MeSH terms

  • Adult
  • Aqueous Humor / metabolism*
  • Biomarkers, Tumor / genetics
  • Biomarkers, Tumor / metabolism
  • Cross-Sectional Studies
  • DNA Mutational Analysis
  • DNA, Neoplasm / analysis*
  • Female
  • High-Throughput Nucleotide Sequencing
  • Humans
  • In Situ Hybridization
  • Intraocular Lymphoma / genetics*
  • Intraocular Lymphoma / metabolism
  • Lymphoma, B-Cell / genetics*
  • Lymphoma, B-Cell / metabolism
  • Male
  • Middle Aged
  • Mutation*
  • Myeloid Differentiation Factor 88 / genetics*
  • Myeloid Differentiation Factor 88 / metabolism

Substances

  • Biomarkers, Tumor
  • DNA, Neoplasm
  • MYD88 protein, human
  • Myeloid Differentiation Factor 88