Rapidly Progressive Metastatic Sertoli Cell Tumor Associated With an Adenomatous Polyposis Coli Mutation: A Case Report and Literature Review

Abstract

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.