Desmoplastic Small Round Cell Tumors: A review with focus on clinical management and therapeutic options. (February 2021)

• Record Type: Journal Article
• Authors: Hendricks, Anne; Boerner, Kevin; Germer, Christoph-Thomas; Wiegering, Armin
• Is Part Of: Cancer treatment reviews. Volume 93(2021)
• Publication Date: 2021-02
• Subjects: DSRCT -- Clinical management -- Soft tissue sarcoma -- Surgery -- HIPEC; Cancer -- Periodicals; Cancer -- Treatment -- Periodicals; Neoplasms -- therapy -- Periodicals; Cancer -- Périodiques; Cancer -- Traitement -- Périodiques; Cancer -- Treatment; Electronic journals; Periodicals; 616.99406
• DOI: 10.1016/j.ctrv.2020.102140
• Languages: English
• ISSNs: 0305-7372

Abstract

Highlights: DSRCT is a neoplasm of young men, long term survival is reserved to a minority. There are no standards of diagnostics and clinical management. Multimodal therapy is frequently used with limited benefit. Sufficient targeted therapies are missing. Patients should be treated at centers and included in clinical trials and registers. Abstract: Desmoplastic Small Round Cell Tumors (DSRCTs) are an entity of rare, aggressive soft tissue sarcomas described by Gerald and Rosai in 1989. It predominantly affects male adolescents and young adults, with a peak incidence between an age of 20 and 30 years. Typically, DSRCT demonstrate as multiple small tumor nodules within the abdominal cave, retroperitoneum and pelvis. In more than 50% of the cases, the neoplasm presents metastatic at the timepoint of diagnosis. Histologically, DSRCTs have a characteristic morphology with sharply demarcated islands of uniform small round cells in abundant desmoplastic stroma organized in loose extracellular matrix. Immunohistochemistry reveals a polyphenotypic differentiation with co-expression of epithelial, myogenic, mesenchymal and neural markers. The morphology is highly variable and can hinder diagnosis. The most consistent molecular characteristic of DSRCT is the reciprocal t(11;22)(p13q12) translocation. This mutation leads to a formation of the EWSR1-WT1 fusion oncogene, which encodes for a chimeric protein with transcriptional regulatory activity and is regarded as driving source of the disease. To date, there is no standardized concept for clinical management, staging and treatment. Patients receive an aggressive multimodal therapeutic approach consisting of chemotherapy, radical surgical procedures, hyperthermic, intraperitoneal chemotherapy (HIPEC) and radiation. New targeted therapies are used in experimental settings as salvage therapy. So far, none of these therapies showed significant long-term success. This review gives an overview of diagnostic difficulties and pitfalls, discusses therapeutic strategies and highlights options for clinical management.