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Molecular profiling of primary central nervous system lymphomas - predictive and prognostic value?
K Grace Ho1, Christian Grommes
1Department of Neurology, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
Current Opinion in Neurology
|October 9, 2019
Summary
Primary central nervous system lymphoma (PCNSL) research explores new diagnostic markers beyond invasive biopsies. Identifying specific genetic alterations may lead to better treatment strategies for this aggressive non-Hodgkin lymphoma.
Area of Science:
- Neuro-oncology
- Hematology
- Genomics
Background:
- Primary central nervous system lymphoma (PCNSL) is an aggressive non-Hodgkin lymphoma.
- Diagnosis relies on invasive tumor biopsies, with most cases being diffuse large B-cell lymphoma (DLBCL).
- Minimally invasive diagnostic methods using serum and cerebrospinal fluid are under development.
Purpose of the Study:
- To review potential diagnostic markers for PCNSL.
- To identify predictors of treatment response in PCNSL.
- To explore advancements in understanding PCNSL pathogenesis.
Main Methods:
- Review of existing literature on PCNSL diagnostics and biomarkers.
- Analysis of immunohistochemistry and genomic sequencing studies.
- Evaluation of potential serum and cerebrospinal fluid markers.
Main Results:
- DLBCL subtypes are classified using immunohistochemistry.
- Genomic sequencing reveals frequent alterations in B-cell receptor signaling genes (e.g., MYD88, CD79B).
- These alterations implicate the NF-kB pathway, targeted by current therapies.
Conclusions:
- Recent genomic profiling enhances understanding of PCNSL drivers.
- Targeted inhibitors are emerging for relapsed/refractory PCNSL.
- Further research is needed to validate potential diagnostic and prognostic markers.
