Intratubular Large Cell Hyalinizing Sertoli Cell Neoplasia of the Testis: A Report of 8 Cases of a Distinctive Lesion of the Peutz-Jeghers Syndrome

Abstract

We report the clinical and pathologic features of 8 boys with Peutz-Jeghers syndrome who had distinctive testicular lesions. The patients were 4 to 13 years of age (mean, 6.5 y), and all had gynecomastia, which was the presenting feature in 7. Physical examination demonstrated bilateral testicular enlargement in the absence of a discrete mass. Advanced bone age and elevated serum estradiol were demonstrated in 3 and 4 cases, respectively. Testicular biopsy, performed in all cases, usually showed no gross abnormality, but on microscopic examination there were patchily distributed clusters of expanded seminiferous tubules that contained large Sertoli cells with vacuolated to eosinophilic cytoplasm admixed with globular deposits of basement membrane that extended from a thickened peritubular basement membrane. Small, focal calcifications occurred in 3 cases; no invasive tumor was present in any of the cases. Follow-up was available in 5 patients after biopsy, and none showed evidence of progression at 10 months to 5 years (median, 4 y). Review of the previously reported cases of testicular lesions in Peutz-Jeghers patients verified a low frequency of invasive tumors (27%) and no known case with metastasis. The testicular lesions seen in patients with Peutz-Jeghers syndrome mostly represent multifocal intratubular neoplasia of large Sertoli cells with unique morphology distinct from other lesions such as the large cell calcifying Sertoli cell tumor and sex cord tumor with annular tubules. The process usually remains confined to the tubules for prolonged intervals (years), but it may occasionally progress to invasive large cell Sertoli cell tumors with or without associated calcification. This indolent course justifies management by careful follow-up, including ultrasound examination, rather than orchiectomy in the majority of cases. Orchiectomy is indicated when there is evidence of an invasive tumor and may be necessary to control hormonal manifestations.