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Genomics of aggressive B-cell lymphoma
Allison Rosenthal1, Lisa Rimsza2
1Division of Hematology Medical Oncology, Division of Internal Medicine, Mayo Clinic Arizona, Phoenix, AZ; and.
Hematology. American Society of Hematology. Education Program
|December 4, 2018
Summary
Genomic profiling advances aggressive B-cell lymphoma diagnosis and management. Understanding key genomic abnormalities, like translocations and mutations, refines classification and guides treatment strategies for better patient outcomes.
Area of Science:
- Genomics
- Oncology
- Hematology
Background:
- Genomic information in aggressive B-cell lymphoma diagnosis and management has rapidly expanded.
- High-throughput technologies now enable comprehensive genomic analysis on routine tissue biopsies.
Purpose of the Study:
- To present a case of aggressive B-cell lymphoma.
- To discuss critical genomic abnormalities impacting diagnosis and classification.
- To review current clinical practices and future treatment considerations.
Main Methods:
- Genome-wide evaluation of DNA sequences, RNA expression, translocations, copy-number alterations, loss of heterozygosity, and DNA methylation.
- Analysis of formalin-fixed, paraffin-embedded tissue biopsies.
- Integration of genomic findings with the World Health Organization lymphoma classification system.
Main Results:
- Identification of key genomic abnormalities, including translocations (MYC, BCL2, BCL6) and mutations, essential for specific diagnoses.
- Characterization of gene-expression profiling categories and the newly defined Burkitt-like lymphoma with 11q abnormalities.
- Assessment of prognostic and predictive mutations and tumor heterogeneity.
Conclusions:
- Genomic profiling is crucial for accurate diagnosis and classification of aggressive B-cell lymphomas.
- Understanding genomic features aids in refining prognostic assessments and guiding treatment decisions, especially at relapse.
- Current clinical triage practices are informed by these advancements.
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