Testicular sex cord stromal tumors: analysis of patients from the MAKEI study

Background: In children and adolescents, testicular sex cord stromal tumors (TSCSTs) are rare. There is only limited information available regarding their clinical presentation, biology, and prognosis.

Methods: Between 1993 and 2009, 42 patients were prospectively reported to the cooperative MAHO and MAKEI studies on childhood germ cell tumors. Based on standardized documentation, data on epidemiology, clinical presentation, diagnostic features, histopathological differentiation, therapy, and follow-up were evaluated.

Results: During the study period, a gradual increase of the documentation of these rare tumors was observed. Palpable, indolent testicular swelling was the most common clinical finding. In three patients, retention of the testis was observed. Two patients showed sexual precocity, and one patient showed a 45X/46XY mosaic. Juvenile granulosa cell tumors (n = 16) and Sertoli cell tumor (n = 15) were the leading histopathological subtypes. The first were commonly diagnosed during the first weeks of life (median age: 6(0-162) days, the latter during infancy (median 7(0-14) months, P < 0.05). Other histological diagnoses included Leydig cell and Large Cell Calcifying Sertoli cell tumors (both n = 3) and not-otherwise-specified TSCSTs (n = 5), which were diagnosed during childhood and adolescence. All tumors were limited to the testis; there were no metastases. Treatment was surgical, only. After a median follow-up of 3.8 years, no relapse was observed.

Conclusions: Diagnosis and therapy of testicular tumors should be planned in accordance with the recommendations of the respective childhood germ cell tumor protocols. High inguinal orchiectomy is safe and constitutes definitive therapy. Diagnostic work-up and follow-up should also consider potentially associated tumor predisposition syndromes.