Rapidly Progressive Metastatic Sertoli Cell Tumor Associated With an Adenomatous Polyposis Coli Mutation: A Case Report and Literature Review
Kotaro Obayashi, Mika Terasaki, Hiroya Hasegawa, Hikaru Mikami, Masato Yanagi, Hayato Takeda, Yuki Endo, Yuka Toyama, Ryuji Ohashi, Jun AkatsukaABSTRACT
Introduction
Sertoli cell tumors are rare testicular sex cord‐stromal tumors, and clinically malignant behavior is uncommon. We report a rapidly progressive metastatic Sertoli cell tumor associated with an APC mutation.
Case Presentation
A 27‐year‐old man with familial adenomatous polyposis (FAP) presented with painless right scrotal enlargement. Computed tomography revealed a right testicular tumor and multiple pulmonary nodules suspicious for metastases. Right high inguinal orchiectomy was performed. Histopathological and immunohistochemical findings, including nuclear β‐catenin staining, supported Sertoli cell tumor. Despite bleomycin, etoposide, and cisplatin chemotherapy initially achieving stable disease, metastases progressed after three cycles. Comprehensive genomic profiling identified a pathogenic APC variant likely germline due to his FAP; however, no actionable therapeutic target was identified. Widespread systemic metastases developed. The patient died 11 months post‐orchiectomy.
Conclusion
This case highlights the aggressive potential of APC ‐associated Sertoli cell tumors, characterized by metastatic presentation, limited response to chemotherapy, and a rapidly fatal course.