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.