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

• Main Authors: Daniel S. Rhee, Ira J. Dunkel, Neerav N. Shukla, Michael F. Walsh, Stephen W. Gilheeney, Anita P. Price, Cristina R. Antonescu, Todd E. Heaton
• Format: Article
• Language: English
• Published: Elsevier 2017-12-01
• Series: Journal of Pediatric Surgery Case Reports
• Subjects: Alveolar soft part sarcoma; Retinoblastoma; Secondary malignancy; Bladder tumor; ASPSCR1-TFE3 translocation
• Online Access: http://www.sciencedirect.com/science/article/pii/S2213576617302282

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.