Molecular Characterization of a Rare Case of Bilateral Vitreoretinal T Cell Lymphoma through Vitreous Liquid Biopsy

Int J Mol Sci. 2021 Jun 5;22(11):6099. doi: 10.3390/ijms22116099.


Vitreoretinal lymphoma (VRL) is an uncommon eye malignancy, and VRLs of T cell origin are rare. They are difficult to treat, and their molecular underpinnings, including actionable genomic alterations, remain to be elucidated. At present, vitreous fluid liquid biopsies represent a valuable VRL sample for molecular analysis to study VRLs. In this study, we report the molecular diagnostic workup of a rare case of bilateral T cell VRL and characterize its genomic landscape, including identification of potentially targetable alterations. Using next-generation sequencing of vitreous-derived DNA with a pan-cancer 126-gene panel, we found a copy number gain of BRAF and copy number loss of tumor suppressor DNMT3A. To the best of our knowledge, this represents the first exploration of the T cell VRL cancer genome and supports vitreous liquid biopsy as a suitable approach for precision oncology treatments.

Keywords: T cell lymphoma; liquid biopsy; next-generation sequencing; precision oncology; vitreoretinal lymphoma.

Publication types

  • Case Reports

MeSH terms

  • Biomarkers, Tumor / genetics
  • DNA (Cytosine-5-)-Methyltransferases / genetics*
  • DNA Copy Number Variations / genetics
  • DNA Methyltransferase 3A
  • Gene Expression Regulation, Neoplastic / genetics
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Liquid Biopsy
  • Lymphoma, T-Cell / genetics*
  • Lymphoma, T-Cell / pathology
  • Male
  • Middle Aged
  • Neoplasm Proteins / genetics
  • Proto-Oncogene Proteins B-raf / genetics*
  • Retinal Neoplasms / genetics*
  • Retinal Neoplasms / pathology
  • Vitreous Body / metabolism
  • Vitreous Body / pathology


  • Biomarkers, Tumor
  • DNMT3A protein, human
  • Neoplasm Proteins
  • DNA (Cytosine-5-)-Methyltransferases
  • DNA Methyltransferase 3A
  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf