A case of testicular dysgenesis syndrome with squamous cell carcinoma of the prostate harboring a CDK12 mutation

Introduction: Primary squamous cell carcinoma of the prostate is rare, and genetic profiling of this disease has not been established yet. Case presentation: We present a case of primary squamous cell carcinoma in a patient with testicular dysgenesis syndrome. The patient was diagnosed with prostate squamous cell carcinoma following intractable dysuria, and his serum prostate-specific antigen level was low. The patient had multiple lymph node and lung metastases, which led to administration of platinum-based chemotherapy. Additionally, targeted next-generation genome sequencing was performed to detect CDK12 mutations. Conclusion: Early imaging studies should be considered, even if the patient's prostate-specific antigen level is low when dysuria persists despite medical treatment. To the best of our knowledge, this is the first reported case of primary squamous cell carcinoma with a CDK12 mutation in a patient with TDS.