Anti-ASPSCR1 monoclonal antibody, clone 4E20-2E22

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. (C) 2017 The Authors. Published by Elsevier Inc.

Sarcoma is a broad term for mesenchymal malignancies that arise from soft tissue or bone. Despite classification by histologic subtype, clinical behavior and response to therapy have great variability. Modern genetic sequencing techniques have been able to identify additional genetic variability and subsequently new targeted therapies. In this review, we discuss the current state of STS diagnostics and treatment and explore some of the more promising areas in which progress is being made. We discuss therapies targeting PDGFR alpha/KIT, beta-Catenin/APC/NOTCH, IDH-1/2 mutations, MDM2 amplifications, EZH2/INI1 expression loss, ALK fusion, and ASPSCR1-TFE3 fusion. We also discuss the progress that has been made within immunotherapies. While soft tissue sarcomas still portend a poor prognosis, these targeted therapies and immunotherapies provide treatment with less toxic side effects. (C) 2019 Elsevier Inc. All rights reserved.