Genetic alterations of prostate cancer: in localized and metastatic prostate cancer.

PURPOSE

The purpose of this study was to identify genetic mutations in patients with localized and metastatic prostate cancer, exploring the relationship between these mutations and clinical outcomes.

MATERIALS AND METHODS

We conducted next-generation sequencing on tissue samples from 106 prostate cancer patients at Seoul St. Mary’s Hospital, analyzing prostate-specific antigen (PSA) levels, tumor, node, metastasis (TNM) staging, Gleason score (GS), and clinical course, including treatment modalities and biochemical recurrence (BCR).

RESULTS

The study included 65 patients with localized and 41 with metastatic prostate cancer. Significant differences were noted in PSA levels, T stage, GS, and treatment modalities. We observed prevalent single-nucleotide variations (SNVs), copy number variations (CNVs), and structural variations including gene fusions like TMPRSS2-ERG. Key predictors of metastatic prostate cancer identified were T stage, GS, PIK3CA, LRP6, LRRK2, and APOBEC3B deletion. BRCA2, BCL6, and CHEK2 were significant predictors for BCR.

CONCLUSION

Our findings suggest that specific genetic mutations, including PIK3CA, LRP6, LRRK2, and BRCA2, are linked to prostate cancer metastasis and BCR. These results highlight the potential of genetic analysis in forecasting the prognosis of prostate cancer patients and guiding therapeutic decisions.

SUPPLEMENTARY INFORMATION

The online version contains supplementary material available at 10.1186/s12894-025-01840-5.