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CSMD3 is Associated with Tumor Mutation Burden and Immune Infiltration in Ovarian Cancer Patients
Nan Lu1, Jinhui Liu2, Mengting Xu2
1Department of Reproduction, The First Affiliated Hospital of Nanjing Medical University, Nanjing, People's Republic of China.
Background:
Globally, ovarian cancer (OC), the deadliest gynecologic malignancy, remains a major cause of mortality, with a rising number of cases in many low- and middle-income countries. Immunotherapy has been proven to be promising for OC. There is increasing awareness of the vital role that tumor mutation burden (TMB) plays in predicting the efficacy of immunotherapy. Women with a family history of OC are at higher risk of the disease due to gene mutations. However, whether these gene mutations are related to immune response and TMB remains to be explored.
Methods:
Our present work analyzed genetic mutation data of OC patients obtained from The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) cohorts, and we identified 11 frequently mutated genes, namely, APOB, CSMD3, DST, FAT3, FLG, HMCN1, MUC16, RYR1, TP53, TTN, and USH2A, in accordance with the overlap of two databases.
Results:
A statistically higher TMB was detected by whole-exome sequencing in patients with OC with CSMD3 mutation than in those with mutations in the other frequently mutated genes. Prognosis analysis performed with patients from the TCGA cohort revealed that those with CSMD3 mutation had an overall survival (OS) that was inferior to that of those with wild-type CSMD3. Gene set enrichment analysis (GSEA) and CIBERSORT analysis indicated that OC samples with CSMD3 mutations had significant involvement of pathways related to the immune response.
Conclusion:
In summary, we found that CSMD3 mutation is highly correlated with increased TMB and poor clinical prognosis and that it might function as a biomarker for predicting prognosis and choosing an immunotherapy regimen.
Insights
CSMD3 gene mutations in ovarian cancer are linked to higher tumor mutation burden and poorer survival. This finding suggests CSMD3 could be a biomarker for predicting ovarian cancer prognosis and guiding immunotherapy selection.
Area of Science:
- Oncology
- Genomics
- Immunotherapy
Background:
- Ovarian cancer (OC) is a leading cause of gynecologic cancer mortality globally, with increasing incidence in low- and middle-income countries.
- Immunotherapy shows promise for OC treatment, and tumor mutation burden (TMB) is a key predictor of its efficacy.
- The relationship between inherited gene mutations, immune response, and TMB in OC requires further investigation.
Purpose of the Study:
- To investigate the association between frequently mutated genes in ovarian cancer and tumor mutation burden (TMB).
- To explore the clinical significance of these gene mutations, particularly in relation to patient prognosis and immune response.
- To identify potential biomarkers for predicting ovarian cancer outcomes and immunotherapy response.
Main Methods:
- Analysis of genetic mutation data from The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) cohorts.
- Identification of 11 frequently mutated genes in ovarian cancer through data overlap.
- Whole-exome sequencing, survival analysis, gene set enrichment analysis (GSEA), and CIBERSORT analysis were employed.
Main Results:
- CSMD3 mutations were associated with a statistically significant higher TMB compared to other frequently mutated genes.
- Patients with CSMD3 mutations exhibited inferior overall survival (OS) compared to those with wild-type CSMD3.
- Gene set enrichment analysis and CIBERSORT revealed significant involvement of immune response pathways in OC samples with CSMD3 mutations.
Conclusions:
- CSMD3 mutation is strongly correlated with increased TMB and poor clinical prognosis in ovarian cancer.
- CSMD3 may serve as a valuable biomarker for predicting patient prognosis.
- CSMD3 mutation status could aid in selecting appropriate immunotherapy regimens for ovarian cancer patients.
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