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Updated: Apr 12, 2026
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Comparative Lesions Analysis Through a Targeted Sequencing Approach
Published on: November 5, 2019
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Genome-Wide Analysis Uncovers Novel Recurrent Alterations in Primary Central Nervous System Lymphomas
Esteban Braggio1, Scott Van Wier2, Juhi Ojha2
1Mayo Clinic, Scottsdale, Arizona. braggio.esteban@mayo.edu.
Summary
Genomic analysis reveals unique alterations in primary central nervous system lymphoma (PCNSL), distinguishing it from systemic diffuse large B-cell lymphoma (DLBCL). These findings, including TOX and PRKCD inactivation, offer potential therapeutic targets for PCNSL.
Area of Science:
- Oncology
- Genomics
- Immunology
Background:
- Primary central nervous system lymphoma (PCNSL) is an aggressive non-Hodgkin lymphoma.
- The genomic landscape of PCNSL and its distinction from systemic diffuse large B-cell lymphoma (DLBCL) remain unclear.
Purpose of the Study:
- To identify a specific genomic signature for PCNSL.
- To compare the genomic profile of PCNSL with that of systemic DLBCL.
Main Methods:
- Comprehensive genomic analysis of 19 immunocompetent PCNSL patient tumor samples.
- Utilized array-comparative genomic hybridization and whole exome sequencing.
Main Results:
- Recurrent biallelic inactivation of TOX and PRKCD identified in PCNSL, absent in DLBCL.
- High prevalence of MYD88 mutations (79%) and CDKN2A biallelic loss (60%) in PCNSL.
- Over 90% of PCNSL cases showed alterations in B-cell receptor/Toll-like receptor/NF-κB pathways, suggesting therapeutic potential.
Conclusions:
- Genome-wide analysis identified novel recurrent alterations, including TOX and PRKCD.
- These genomic findings aid in differentiating PCNSL from systemic DLBCL and related lymphomas.
- The study highlights the potential for targeted therapeutic strategies in PCNSL.
