Desmoplastic small round cell tumors with EWS-WT1 fusion transcript in children and young adults

Pediatr Blood Cancer. 2012 Jun;58(6):891-7. doi: 10.1002/pbc.23403. Epub 2011 Dec 11.

Abstract

Background: The presence of the EWS-WT1 gene fusion transcript (GFT) is characteristic of desmoplastic small round cell tumor (DSRCT), a rare and very aggressive disease for which the treatment has not yet been clearly standardized.

Methods: This was a retrospective national multicenter analysis of young patients <30 years with tumors expressing the EWS-WT1-GFT, designed to determine whether extensive surgery had an impact on survival.

Results: Between 1995 and 2006, a EWS-WT1-GFT was detected in the tumors of 38 patients, 17 (44.7%) of whom had had a different initial pathologic diagnosis prior to molecular testing. Mean age was 13.2 years (range: 4-29.7 years). Only 9 patients (24%) had localized disease. Treatment was heterogeneous. Nine patients had "limited" surgical resections and 22 underwent "extensive" surgery. Two-year event-free survival and overall survival were 14.4% and 50%, respectively. Among the five patients who were alive in complete remission, four had undergone extensive and complete surgery.

Conclusions: Detection of the EWS-WT1-GFT plays a major role in the diagnosis of DSRCT. No survival difference was observed according to extent of surgery, but complete surgery seemed to offer the best chance of long-term survival. High-dose chemotherapy or local radiotherapy did not appear to improve survival in this retrospective analysis, but larger prospective studies are needed to provide definitive conclusions on the role of these treatments.

Publication types

  • Multicenter Study

MeSH terms

  • Adolescent
  • Adult
  • Antineoplastic Combined Chemotherapy Protocols
  • Child
  • Child, Preschool
  • Combined Modality Therapy
  • Desmoplastic Small Round Cell Tumor / genetics*
  • Desmoplastic Small Round Cell Tumor / mortality*
  • Desmoplastic Small Round Cell Tumor / surgery*
  • Disease-Free Survival
  • Female
  • Humans
  • Kaplan-Meier Estimate
  • Male
  • Oncogene Proteins, Fusion / genetics*
  • Radiotherapy
  • Real-Time Polymerase Chain Reaction
  • Retrospective Studies
  • Reverse Transcriptase Polymerase Chain Reaction
  • Treatment Outcome
  • Young Adult

Substances

  • EWS1-WT1 fusion protein, human
  • Oncogene Proteins, Fusion