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

Authors: 
A.K. Cani; M.A. Toral; D.A. Balikov; B.L. Betz; K. Hu; C.J. Liu; M.V. Prifti; A.M. Chinnaiyan; S.A. Tomlins; V.B. Mahajan; R.C. Rao

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 and copy number loss of tumor suppressor . 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.

Citation: 
Cani AK, Toral MA, Balikov DA, et al. "Molecular Characterization of a Rare Case of Bilateral Vitreoretinal T Cell Lymphoma through Vitreous Liquid Biopsy." Int J Mol Sci. 2021;22(11).
PMCID: 
PMC8201094
PubMed ID: 
34198843
Year of Publication: 
2021