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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Veröffentlicht in:	Ocular immunology and inflammation Jg. 32; H. 8; S. 1689 - 1697
Hauptverfasser:	Balikov, Daniel A., Conway, Kyle, Brown, Noah A., Camelo-Piragua, Sandra, Rao, Rajesh C.
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	England 01.10.2024
Schlagworte:	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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Zusammenfassung:	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.
Bibliographie:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	0927-3948 1744-5078 1744-5078
DOI:	10.1080/09273948.2023.2287061