Abstract
Simple SummaryPrimary central nervous system lymphoma (PCNSL) is an uncommon disease accounting for around 3% of primary CNS tumors. PCNSL exhibits aggressive clinical behavior and has an overall poor prognosis. The clinical presentation is variable, and there are no specific symptoms. Despite progress in radiographic neuroimaging, stereotactic brain biopsy remains obligatory for definitive diagnosis. Advanced standard diagnostics, including CSF cytology and flow cytometry, have limited sensitivity. Accordingly, there is an urgent need to improve the diagnostic tools for PCNSL, including novel non-invasive procedures. The aim of this review is to present and discuss modern methods that have the potential to contribute standard clinical diagnostics within the next few years.Primary central nervous system lymphoma is a rare but highly aggressive form of non-Hodgkin lymphoma that remains confined to the CNS neuroaxis. The diagnosis of PCNSL requires a high level of suspicion as clinical presentation varies depending on the involved CNS areas. Neurological symptoms and MRI findings may mimic gliomas, demyelinating lesions, or infectious and granulomatous diseases. Almost all PCNSL patients undergo invasive surgical procedures for definite diagnosis. Stereotactic biopsy is still the gold standard in achieving a diagnostic accuracy of 73–97%. Both the potential procedural morbidity and mortality, as well as the time to definite histopathologic diagnosis resulting in delays of treatment initiation, have to be considered. On the contrary, minimally invasive procedures, such as MRI, CSF cytology, and flow cytometry, still have limited value due to inferior specificity and sensitivity. Hence, novel diagnostic approaches, including mutation analyses (MYD88) in circulating tumor DNA (ctDNA) and the determination of microRNAs (miR-21, miR-19b, and miR-92) as well as cytokine levels (IL10 and IL6) in blood, cerebrospinal fluid (CSF), and vitreous fluid (VRF), move into the focus of investigation to facilitate the diagnosis of PCNSL. In this review, we outline the most promising approaches that are currently under clinical consideration.
Highlights
Primary central nervous system lymphoma (PCNSL) is a rare disease accounting for around 4% of primary central nervous system (CNS) tumors in immunocompetent patients [1]
The definition of PCNSL includes the lack of any systemic disease manifestation at diagnosis, and it has to be separated from secondary spread of systemic lymphoma to the CNS
Regardless of leptomeningeal lymphoma confirmed by cytopathology, distinctly increased free immunoglobulin light chain (FLC) ratios were detected in 52% (11/21) of patients with CNS lymphomas as compared to control individuals suffering from different neurological diseases
Summary
Primary central nervous system lymphoma (PCNSL) is a rare disease accounting for around 4% of primary central nervous system (CNS) tumors in immunocompetent patients [1]. PCNSL comprises an uncommon subgroup of non-Hodgkin lymphomas that are limited to the brain, eyes, leptomeninges, and, in rare cases, the spinal cord. The definition of PCNSL includes the lack of any systemic disease manifestation at diagnosis, and it has to be separated from secondary spread of systemic lymphoma to the CNS (secondary CNS lymphoma, SCNSL). About 95% of PCNSLs belong to the group of diffuse large B-cell lymphomas, whereas the remaining 5% consist of T-cell, marginal zone, Burkitt, and lymphoblastic lymphomas [2]. Compared to classic diffuse large B-cell lymphoma (DLBCL), PCNSLs exhibit a more invasive growth pattern and have an inferior prognosis [1]. Mutations in specific genes, including MYD88 (35–80%), PIM1 (69%), TBL1XR1 (24%), TRDM1 (24%), BTG2 (29%), and PRDM1 (24%), contribute to disease pathogenesis [4]
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