Molecular Analysis of Liquid Vitreous Biopsy Reveals Occult Lymphoma Following Cytology-Negative Biopsies of the Brain and Vitreous

Primary central nervous system lymphoma (PCNSL) is a rare but deadly malignancy that principally affects adults in the fifth and sixth decades of life. Despite diagnostic advances in analyses of cerebral spinal fluid and neuroimaging, definitive diagnosis of PCNSL requires primary brain tissue biops...

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Bibliographic Details
Published in:Ocular immunology and inflammation Vol. 32; no. 8; pp. 1689 - 1697
Main Authors: Balikov, Daniel A., Conway, Kyle, Brown, Noah A., Camelo-Piragua, Sandra, Rao, Rajesh C.
Format: Journal Article
Language:English
Published: England 01.10.2024
Subjects:
Aged
Biopsy
Brain - pathology
Brain Neoplasms - diagnosis
Brain Neoplasms - genetics
Brain Neoplasms - pathology
Female
Humans
Intraocular Lymphoma - diagnosis
Intraocular Lymphoma - genetics
Intraocular Lymphoma - pathology
Liquid Biopsy
Lymphoma - diagnosis
Lymphoma - genetics
Lymphoma - pathology
Lymphoma, Large B-Cell, Diffuse - diagnosis
Lymphoma, Large B-Cell, Diffuse - genetics
Lymphoma, Large B-Cell, Diffuse - pathology
Magnetic Resonance Imaging
Mutation
Myeloid Differentiation Factor 88 - genetics
Retinal Neoplasms - diagnosis
Retinal Neoplasms - genetics
Retinal Neoplasms - pathology
Retrospective Studies
Vitreous Body - pathology
molecular diagnostics
Liquid biopsy
vitreous biopsy
MYD88
primary central nervous system lymphoma
ISSN:0927-3948, 1744-5078, 1744-5078
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Summary:Primary central nervous system lymphoma (PCNSL) is a rare but deadly malignancy that principally affects adults in the fifth and sixth decades of life. Despite diagnostic advances in analyses of cerebral spinal fluid and neuroimaging, definitive diagnosis of PCNSL requires primary brain tissue biopsy. While small neurosurgical biopsy volumes are pursued to minimize removal of normal brain tissue, the spatial margins to precisely biopsy pathologic tissue are narrow and can result in missed diagnoses. Furthermore, prior steroid treatment can significantly reduce tumor burden increasing the likelihood of a non-diagnostic biopsy. A retrospective case report from a tertiary referral center using a combination of neuroradiological studies, sterotactic tissue biopsy, and molecular testing for genome mutations. A 72-year-old woman with strong suspicion for PCNSL clinically and radiologically, but cerebral spinal fluid and primary brain tissue biopsy were negative for tumor. However, vitreous liquid biopsy molecular testing for a mutation as well as B-cell clonality ( rearrangement) were positive, indicating the presence of secondary vitreoretinal lymphoma from PCNSL. Only after autopsy of her brain was histopathological and immunohistochemical evidence of PCNSL confirmed. This case illustrates the unique contribution of liquid biopsy neuropathology-oriented molecular testing in a challenging case with high clinical suspicion of PCNSL in which gold-standard diagnostic testing failed to yield a diagnosis.
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ISSN:0927-3948
1744-5078
1744-5078
DOI:10.1080/09273948.2023.2287061