Alveolar soft part sarcoma of the bladder with ASPSCR1-TFE3 gene fusion as a secondary malignancy

Daniel S. Rhee, Ira J. Dunkel, Neerav N. Shukla, Michael F. Walsh, Stephen W. Gilheeney, Anita P. Price, Cristina R. Antonescu, Todd E. Heaton

Research output: Contribution to journalArticlepeer-review


Alveolar soft part sarcoma (ASPS) represents <1% of all soft tissue sarcomas and harbors the ASPSCR1-TFE3 translocation, which is found in pediatric renal cell carcinomas arising after chemotherapy. We present the case of a female patient, treated for metastatic retinoblastoma (Rb) with surgery, radiation, and chemotherapy at age 21 months, who was diagnosed with ASPS of the bladder 5 years later when imaging revealed a polypoid mass arising from the left bladder wall. Endoscopic biopsy and tumor resection were performed. After histopathologic confirmation of ASPSCR1-TFE3 fusion-positive ASPS, negative margins were achieved with wide local excision. At 18 months post-surgery, she remains recurrence-free.

Original languageEnglish (US)
Pages (from-to)19-22
Number of pages4
JournalJournal of Pediatric Surgery Case Reports
StatePublished - Dec 2017


  • ASPSCR1-TFE3 translocation
  • Alveolar soft part sarcoma
  • Bladder tumor
  • Retinoblastoma
  • Secondary malignancy

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Surgery

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