Clinical Report: Sertoli Cell Tumor Associated with Familial Adenomatous Polyposis

Background

Familial adenomatous polyposis (FAP) is a hereditary condition characterized by the development of numerous colorectal adenomatous polyps, leading to a high risk of colorectal cancer. While extra-intestinal malignancies are recognized in FAP, the occurrence of testicular sex cord stromal tumors, such as Sertoli cell tumors, is rare and not well understood. The association between FAP and testicular tumors has been infrequently reported in the literature.

Data Highlights

No numerical data or trial data presented in the article.

Key Findings

• A 50-year-old man with genetically confirmed FAP presented with a testicular lesion.
• The histopathologic assessment revealed a Sertoli cell tumor without high-risk features.
• The tumor demonstrated diffuse nuclear beta-catenin expression, indicating Wnt pathway activation.
• Genetic analysis identified a heterozygous pathogenic APC mutation in the patient.
• Adjuvant chemotherapy was initiated following colectomy, which was well tolerated with some dose adjustments due to neuropathy.

Clinical Implications

Clinicians should be aware of the potential for Sertoli cell tumors in patients with familial adenomatous polyposis, particularly in the context of other malignancies.

Conclusion

This case highlights the association between germline APC mutations and the development of Sertoli cell tumors in patients with familial adenomatous polyposis.

Related Resources & Content

1. the pathologist, The Tumor Test That Solves Polyposis, 2026 -- The Tumor Test That Solves Polyposis
2. the pathologist, Case of the Month, 2018 -- Case of the Month
3. The ASCO Post, Study Tests Strategy for Reducing Colorectal Cancer Risk Among Patients With Familial Adenomatous Polyposis, 2022 -- Study Tests Strategy for Reducing Colorectal Cancer Risk Among Patients With Familial Adenomatous Polyposis
4. Management of Inherited Adenomatous Polyposis Syndromes (2024) | ASCRS Toolkit - FREE Resources -- Management of Inherited Adenomatous Polyposis Syndromes (2024)
5. Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision, 2024 -- Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision
6. Genetic Clinic Analysis of Phenotypic Variation in Patients with Multiple Serrated Polyps
7. Sertoli Cell Tumors of the Testes: Systematic Literature Review and Meta‐Analysis of Outcomes in 435 Patients
8. Germline APC Alterations May Predispose to Testicular Sex Cord-Stromal Tumors
9. Familial syndromes associated with testicular and paratesticular neoplasms: a comprehensive review
10. Management of Inherited Adenomatous Polyposis Syndromes (2024) | ASCRS Toolkit - FREE Resources
11. Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision - PMC
12. Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision
13. https://d56bochluxqnz.cloudfront.net/documents/full-guideline/EAU-Guidelines-on-Testicular-Cancer-2026.pdf
14. Frontiers | Sertoli cell tumor in familial adenomatous polyposis: A case report