An unusual path to diagnosis: Sertoli cell neoplasia revealing Peutz-Jeghers syndrome in an 8-year-old boy

Abstract

Sertoli cell tumors (SCTs) are a rare occurrence, accounting for 0.4 %–1.5 % of all testicular masses. They are characterized as classic, large cell calcifying, or sclerosing Sertoli cell tumors depending on their clinical characteristics. These tumors can be associated with multiple genetic disorders, one of which is Peutz-Jeghers syndrome (PJS). PJS is a result of the mutation of STK11/LKB1 gene, manifesting as oral hyperpigmentation, benign colonic polyps, gastrointestinal and non-gastrointestinal tumors. Here we describe a case of intratubular large cell hyalinizing Sertoli cell tumor, a particularly rare variant of SCTs, with the detailed steps in diagnosis and management.