A case of testicular dysgenesis syndrome with squamous cell carcinoma of the prostate harboring a CDK12 mutation
Yasuaki Murata, Takeo Kosaka, Kohei Nakamura, Yuto Baba, Eri Arai, Yota Yasumizu, Kazuhiro Matsumoto, Hiroshi Nishihara, Mototsugu OyaIntroduction
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.