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Whole-exome and transcriptome sequencing of refractory diffuse large B-cell lymphoma
Ha Young Park1,2, Seung-Bok Lee3, Hae-Yong Yoo4
1Department of Biomedical Sciences, Seoul National University Graduate School, Seoul, 03080, Republic of Korea.
Oncotarget
|November 12, 2016
Summary
Genetic alterations in refractory diffuse large B-cell lymphoma (DLBCL) were identified. TP53 mutations and specific gene fusions/gains were linked to treatment resistance in DLBCL patients.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Diffuse large B-cell lymphoma (DLBCL) is the most common non-Hodgkin lymphoma.
- While rituximab improves outcomes, some DLBCL patients develop resistance, necessitating research into underlying genetic factors.
Purpose of the Study:
- To identify genetic alterations associated with refractory DLBCL.
- To compare genomic and transcriptomic profiles of refractory versus responsive DLBCL.
Main Methods:
- Whole-exome sequencing and transcriptome sequencing were performed on patients with refractory and responsive DLBCL.
- Analysis focused on identifying somatic mutations, indels, gene fusions, and copy number alterations.
Main Results:
- Refractory DLBCL patients exhibited a higher average number of pathogenic somatic variants compared to responsive patients.
- TP53 mutations, particularly in the DNA-binding domain and associated with copy number deletions, were exclusive to refractory cases.
- Recurrent mutations (RAB11FIP5, PRKCB, etc.), increased frequency mutations (MYD88, B2M, etc.), REL-BCL11A fusion, and copy gains (POU2AF1, SLC1A4, etc.) were observed in refractory DLBCL.
- Gene expression analysis revealed enrichment in pathways like oxidative phosphorylation and ABC transporters, correlating with treatment resistance.
Conclusions:
- Integrated genomic and transcriptomic analysis reveals key alterations in refractory DLBCL.
- Identified genetic alterations, including TP53 mutations and specific gene fusions/gains, may drive treatment resistance in DLBCL.
