EWSR1(22q12) Translocation Positive Pediatric Adrenal Tumor with Loss of 1p, 11q, and Unbalanced Gain of 17q: Neuroblastoma or Ewing Sarcoma?

ABSTRACT

Background Although neuroblastoma and Ewing sarcoma/Primitive neuroectodermal tumor are different clinical entities, they are both a member of small round blue cell tumors and can mimic each other's behavior in clinical and molecular aspects. Case report A 3 year-old girl with an abdominal mass was found to have a small round blue cell tumor originating from the right adrenal gland. High level of neuron specific enolase, initial genetic test results (N-Myc amplification negative, loss of 1p, 11q, and unbalanced gain of 17q) and characteristic radiological appearance of the tumor suggested a preliminary diagnosis of neuroblastoma but further analysis showed CD99 expression and presence of EWSR1 rearrangement, which are mostly observed in Ewing sarcoma. Conclusion: Adrenal gland tumors of childhood with complex immunophenotypic features requires distinguishing two discrete tumors in the small round blue cell tumor group, neuroblastoma and Ewing sarcoma. Although no exact diagnosis of the tumor was made, we reached a good response with neuroblastoma treatment protocol.