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Article

Diagnosing Vitreoretinal Lymphomas—An Analysis of the Sensitivity of Existing Tools

1
Department of Ophthalmology, Wills Eye Hospital, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA 19107, USA
2
Bower Laboratory for Translational Medicine Vickie and Jack Farber, Vision Research Center, Wills Eye Hospital, Philadelphia, PA 19107, USA
3
Department of Ophthalmology, Mayo Clinic, Jacksonville, FL 32224, USA
4
Department of Pathology, Wills Eye Hospital, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA 19107, USA
5
Department of Ophthalmology, Medical University of Vienna, 1090 Vienna, Austria
*
Author to whom correspondence should be addressed.
Academic Editor: Edoardo Midena
Cancers 2022, 14(3), 598; https://doi.org/10.3390/cancers14030598
Received: 14 December 2021 / Revised: 21 January 2022 / Accepted: 22 January 2022 / Published: 25 January 2022
(This article belongs to the Special Issue New Perspectives of Ocular Oncology)
Diagnostics of vitreoretinal lymphoma is very challenging, as the possibility of receiving false negative results is common. We retrospectively analyzed the sensitivity of the most commonly used diagnostic methods including ancillary immunohistochemistry, Myeloid Differentiation Factor 88 (MyD88) L256P mutation analysis, polymerase chain reaction (PCR) for monoclonal rearrangements of immunoglobulin heavy chain (IgH) and T-cell Receptor (TCR) genes, flow cytometry, and IL10 and IL6 analysis, to diagnose vitreoretinal lymphomas from published data in the literature. MyD88 mutation analysis caused by a hotspot mutation in MyD88 was the most sensitive and had the lowest coefficient of variation.
Vitreoretinal lymphoma (VRL) is a rare ocular pathology that is notorious for mimicking chronic uveitis, which is a seemingly benign condition in comparison. The most common form of VRL is the diffuse large B-cell type, and there has been a high mortality rate. This dismal prognosis can be improved significantly if the disease is diagnosed early, but until now there is no consensus on an appropriate diagnostic algorithm. We conducted a retrospective search of PubMed Central® and analyzed results from thirty-three studies that were published between 2011–2021. The chosen studies incorporated some popular testing tools for VRL, and our analyses focused on comparing the average sensitivity of five diagnostic methods. The methods included cytology including ancillary immunohistochemistry, Myeloid Differentiation Factor 88 (MyD88) mutation analysis, polymerase chain reaction (PCR) for monoclonal rearrangements of immunoglobulin heavy chain (IgH) and T-cell Receptor (TCR) genes, flow cytometry, and IL10 and IL6 analysis. Across the varied diagnostic methods employed in thirty-three studies explored in this analysis, MyD88 mutation assay emerged as a strong contender given its sensitivity and low coefficient of variation. There is an imminent need for the introduction of newer assays that can further improve the sensitivity of identifying MyD88 mutation in cancer cells seen in the vitreous. View Full-Text
Keywords: vitreoretinal lymphoma; primary vitreoretinal lymphoma (PVRL); diagnostics; cytology; flow cytometry; MyD88; PCR; IgH rearrangement; cytokine; IL10; IL6 vitreoretinal lymphoma; primary vitreoretinal lymphoma (PVRL); diagnostics; cytology; flow cytometry; MyD88; PCR; IgH rearrangement; cytokine; IL10; IL6
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MDPI and ACS Style

Sehgal, A.; Pulido, J.S.; Mashayekhi, A.; Milman, T.; Deák, G.G. Diagnosing Vitreoretinal Lymphomas—An Analysis of the Sensitivity of Existing Tools. Cancers 2022, 14, 598. https://doi.org/10.3390/cancers14030598

AMA Style

Sehgal A, Pulido JS, Mashayekhi A, Milman T, Deák GG. Diagnosing Vitreoretinal Lymphomas—An Analysis of the Sensitivity of Existing Tools. Cancers. 2022; 14(3):598. https://doi.org/10.3390/cancers14030598

Chicago/Turabian Style

Sehgal, Anahita, Jose S. Pulido, Arman Mashayekhi, Tatyana Milman, and Gabor Gy Deák. 2022. "Diagnosing Vitreoretinal Lymphomas—An Analysis of the Sensitivity of Existing Tools" Cancers 14, no. 3: 598. https://doi.org/10.3390/cancers14030598

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