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VDJ-Seq: Deep Sequencing Analysis of Rearranged Immunoglobulin Heavy Chain Gene to Reveal Clonal Evolution Patterns of B Cell Lymphoma
Published on: December 28, 2015
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Mutational Profile and Clonal Evolution of Relapsed/Refractory Diffuse Large B-Cell Lymphoma.
Boram Lee1,2, Hyunwoo Lee3, Junhun Cho3
1Samsung Genome Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
Frontiers in Oncology
|March 29, 2021
Summary
Investigating genetic alterations in refractory/relapsed diffuse large B-cell lymphoma (rrDLBCL) reveals key genes associated with treatment resistance and survival outcomes. This research identifies potential targets for developing novel therapies against rrDLBCL.
Area of Science:
- Hematology
- Oncology
- Genetics
Background:
- Primary refractory/relapsed diffuse large B-cell lymphoma (rrDLBCL) presents a significant challenge in current treatment paradigms.
- There is a critical need for novel therapeutic strategies to overcome treatment resistance in DLBCL.
Purpose of the Study:
- To explore genetic mechanisms underlying treatment resistance in rrDLBCL.
- To identify candidate genes for future therapeutic development in rrDLBCL.
Main Methods:
- Targeted deep sequencing of 430 lymphoma-related genes in 58 rrDLBCL patients.
- Analysis of genetic alterations between initial and post-treatment biopsies.
- Investigating the association of gene mutations with overall and progression-free survival.
Main Results:
- Frequently altered genes (>20%) include CDKN2A, PIM1, CD79B, TP53, MYD88, and MYC.
- Mutations in NOTCH1, FGFR2, BCL7A, BCL10, SPEN, and TP53 were linked to poorer overall survival.
- Immune-evasion genes showed altered mutation frequencies and copy numbers post-treatment, suggesting immune escape mechanisms.
Conclusions:
- Genetic profiling of rrDLBCL reveals key mutations driving treatment resistance.
- Identified genes, particularly those involved in immune evasion, offer potential targets for novel therapeutic strategies.
- Understanding mutational evolution is crucial for developing effective treatments for rrDLBCL.
