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BTG1 Mutation Correlates with Inferior Prognosis in Diffuse Large B-Cell Lymphoma
Chun-Yu Shang1, Wei Hua1, Tong-Yao Xing1
1Department of Hematology, The First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital, Nanjing, China.
Cancer Research and Treatment
|July 31, 2025
Summary
B cell translocation gene 1 (BTG1) mutations are linked to poorer outcomes in diffuse large B-cell lymphoma (DLBCL). These BTG1 mutations may influence DLBCL progression through metabolic reprogramming.
Area of Science:
- Oncology
- Genetics
- Metabolomics
Background:
- B cell translocation gene 1 (BTG1) is a conserved gene frequently mutated in the MCD subtype of diffuse large B-cell lymphoma (DLBCL).
- The specific enrichment of BTG1 mutations (BTG1mut) suggests a potential role in DLBCL pathogenesis.
- The biological characteristics and prognostic significance of BTG1 in DLBCL require further investigation.
Purpose of the Study:
- To evaluate the biological characteristics of BTG1 mutations in DLBCL.
- To assess the prognostic significance of BTG1 mutations in DLBCL patients.
- To explore the underlying mechanisms, including metabolic pathways, associated with BTG1 mutations in DLBCL.
Main Methods:
- Retrospective analysis of 2,379 DLBCL patients from published studies and 243 patients from the Jiangsu Province Hospital (JSPH) cohort.
- Next-generation sequencing (NGS) and RNA-sequencing (RNA-seq) for gene expression analysis.
- Untargeted metabolomic analysis to identify altered metabolic pathways in DLBCL patients with BTG1 mutations.
Main Results:
- BTG1 mutations were identified in 11.0% of the external cohort and 25.1% of the JSPH cohort.
- BTG1 mutations were associated with adverse clinical features and a higher incidence of testicular involvement.
- Patients with BTG1 mutations exhibited significantly inferior overall survival (OS).
- Metabolomic analysis revealed alterations in amino acid and lipid metabolism pathways in BTG1-mutated DLBCL.
Conclusions:
- BTG1 mutation status serves as a promising prognostic predictor in DLBCL.
- Tumor metabolic reprogramming, particularly in amino acid and lipid metabolism, may underlie the differential survival outcomes observed in DLBCL patients with BTG1 mutations.
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