AMR SeriesDesmoplastic Small Round Cell Tumor of the Kidney: Report of a Case, Literature Review, and Comprehensive Discussion of the Distinctive Morphologic, Immunohistochemical, and Molecular Features in the Differential Diagnosis of Small Round Cell Tumors Affecting the KidneyGalliani, Carlos A. MD*; Bisceglia, Michele MD†; Del Giudice, Antonio MD‡; Cretì, Giuseppe MD§Author Information *Department of Pathology, Children’s and Women’s Hospital, Mobile, AL †Anatomic Pathology, School of Biomedical Sciences, Etromapmax Pole, Lesina (FG) ‡Polimedica, Melfi (PZ) §Division of Pediatric Urology, IRCCS “Casa Sollievo della Sofferenza” Hospital, San Giovanni Rotondo, Italy The authors have no funding or conflicts of interest to disclose. All figures can be viewed online in color at www.anatomicpathology.com. Reprints: Michele Bisceglia, MD, Via Santa Chiara, 9, Manfredonia (FG) 71043, Italy (e-mail: email@example.com). Advances In Anatomic Pathology: November 2020 - Volume 27 - Issue 6 - p 408-421 doi: 10.1097/PAP.0000000000000279 Buy Metrics Abstract Desmoplastic small round cell tumor (DSRCT) is a rare, highly aggressive neoplasm typically presenting with widespread involvement of the abdominopelvic peritoneum of adolescent males, usually without organ-based primary. Although it is believed to originate from the serous (mainly peritoneal) membranes, intracranial, sinonasal, intraosseous, and other soft tissue sites are also documented. A chromosomal translocation t(11:22)(p13;q12) signature that fuses EWSR1 and WT1 genes results in the production of a chimeric protein with transcriptional regulatory activity that drives oncogenesis. Integration of clinical, morphologic, immunohistochemical, and genetic data is necessary to arrive at the correct diagnosis, especially when the tumor arises in an atypical site. A 15-year-old male presented with hematuria and was found to have a large renal tumor associated with adrenal, liver, lung, and bone metastases. Histopathologic and immunophenotypic features were distinctive for DSRCT. This diagnosis was confirmed by means of fluorescence in situ hybridization and cytogenetic analysis, which documented the pathognomonic t(11;22) translocation, and by reverse transcription polymerase chain reaction on snap-frozen tissue, which revealed the EWSR1/WT1-specific chimeric transcript. Despite high-dose chemotherapy and radiation therapy targeted to a single T11 vertebral metastasis, the disease progressed, and the patient died 4 years after the diagnosis. A search of electronic databases for DSRCT yielded 16 cases of well-documented renal primaries out of around 1570 cases from all sites gathered from the global literature. Desmoplastic small round blue cell tumor and other primary renal tumors considered in the differential diagnosis with DSRCT are discussed. Copyright © 2020 Wolters Kluwer Health, Inc. All rights reserved.