Case Description
A 13-year-old boy presented with a 9-month history of right testicle swelling. Ultrasound and magnetic resonance imaging of the scrotum revealed a 1.7 x 1.4 cm solid nodule in the right testis (Figure 1) and he underwent a right radical orchiectomy. Histopathological exam showed a whitish neoplastic proliferation in testicular tissue, measuring 1.9 x 1.8 cm, with trabecular arrangements interspersed with fibrous tissue and covered by small, round and blue cells, with few enlarged nuclei and scarce cytoplasm. The nodular tumor was confined to the testis and evaluation of spermatic cord was normal. Immunohistochemistry revealed diffuse positivity for cytokeratin AE1/AE3, neuron-specific enolase and desmin in dot-like pattern. There was also focal positivity for EMA. Chromogranin, synaptophysin, myogenin, inhibin and muscle-actin-specific HHF-35 were negative; INI-1 was intact. Ki-67 proliferation index was 20%. Morphological and immunohistochemical findings were compatible with DSRCT. After diagnosis, the patient was referred for our hospital. Complementary staging exams did not show distant metastases. Next-Generation Sequencing by Illumina NextSeq 500 System was performed, and EWS-WT1 fusion gene was positive, confirming the diagnosis of DSRCT. We then started adjuvant chemotherapy, consisting of 10 cycles of Irinotecan (50mg/m²/d, day 1 to 5) and Vincristine (1.5mg/m²/d, day 1 and day 7). No radiation therapy was performed. Currently the patient is disease-free 96 months after diagnosis.