Desmoplastic small round cell tumor in children: Report of six cases.

PURPOSE: To study the clinical, pathological, and prognostic features of desmoplastic small round cell tumor (DSRCT).

METHODS

Six DSRCTs were retrieved from the archives of the Department of Pathology at Children's Hospital of Fudan University. Clinical manifestations, radiologic characteristics, pathological features, and treatment methods were analyzed, and the postoperative status was evaluated at follow-up.

RESULTS

All patients were males, aged 7-13 years (mean, 10; median, 10) at diagnosis. Primary tumor sites were the abdominal cavity (2/6), pleura, mediastinum, pelvic cavity, and pancreas (1/6 each). Presenting symptoms were abdominal distension and pain (3/6), coughing (2/6), and neck mass (1/6). Tumor diameters ranged from 3.3-21.7 cm (mean, 8.8; median, 7.5). Histologically, all tumors showed irregularly shaped nests of small round cells in abundant desmoplastic stroma. Cells had scant eosinophilic cytoplasm and small hyperchromatic nuclei with inconspicuous nucleoli. One case showed obvious epithelioid differentiation post-chemotherapy. Immunohistochemically, tumors were positive for CK (AE1/AE3) (5/6), desmin (6/6), Synaptophysin (Syn) (4/6), and CD99 (2/6). Ki-67 proliferation indices ranged from 20-70 %. Fluorescence in situ hybridization demonstrated EWSR1::WT1 gene fusion in all cases. Gene sequencing revealed EWSR1exon8-WT1exon8 fusion in DNA and RNA sequencing and WT1 exon7-EWSR1exon9 fusion in DNA sequencing in one case. Two cases underwent partial resection, one gross total resection, and three biopsy only. All received chemotherapy; some received concurrent radiotherapy or immunotherapy. Follow-up intervals were 7-26 months. Median overall survival was 24 months; four patients died, and two remain alive. The estimated 2-year overall survival ratio was 31.2 %.

CONCLUSIONS

DSRCT is rare and may exhibit typical clinicopathological and distinct genetic features in rare locations. This should be considered when encountering small round blue cell tumors at unusual sites to avoid misdiagnosis.