Abstract Desmoplastic small round cell tumor (DSRCT) is a rare malignant neoplasm. Typically it occurs in young adult males and involves the abdomen or pelvis. Other primary sites are uncommon. Only one other case of orbital DSRCT has been reported in the literature. The diagnosis of DSRCTs can be extremely challenging since they often have overlapping histologic and immunohistochemical profile with other small round blue cell tumors. This is particularly true when the tumor occurs in an unusual location, and especially when it lacks the classic histologic pattern. Molecular confirmation is critical when the biopsy sample is limited. Herein, we report a case of DSRCT involving the right orbit of a 3-year-old male with immunohistological and molecular confirmation for DSRCT.
Keywords: pediatric tumors; orbit; desmoplastic small round cell tumor; qRT-PCR; sequencing; EWSR1-WT1