Primary renal sarcoma with SS18::POU5F1 gene fusion Journal Article
| Authors: | Argani, P.; Matoso, A.; Gross, J. M.; Zhang, Y.; SoRelle, J. A.; Gagan, J.; Antonescu, C. R.; Palsgrove, D. |
| Article Title: | Primary renal sarcoma with SS18::POU5F1 gene fusion |
| Abstract: | We report the first case of a primary renal undifferentiated sarcoma harboring an SS18::POU5F1 gene fusion. The patient was a 38 year-old male diagnosed with a 5 cm renal tumor which invaded the adrenal gland and extended into the renal vein. Microscopically, the neoplasm had a predominantly undifferentiated round cell morphology, with areas of rhabdoid and spindle cell growth. Similar to the previously reported cases with this fusion, by immunohistochemistry the neoplasm expressed S100 protein and epithelial markers (diffuse EMA, focal cytokeratin), suggesting the possibility of a myoepithelial phenotype. This report documents another example of a fusion-positive undifferentiated soft tissue sarcoma occurring as a primary renal neoplasm, adding to the already broad list of such entities. It highlights the crucial role of molecular analysis in establishing a specific diagnosis given the overlapping morphology and immunophenotypes such entities may exhibit. © 2022 The Authors. Genes, Chromosomes and Cancer published by Wiley Periodicals LLC. |
| Keywords: | immunohistochemistry; adult; clinical article; human tissue; protein expression; oncoprotein; human cell; genetics; proto-oncogene proteins; histopathology; case report; disease marker; cancer diagnosis; phenotype; cell structure; cell growth; pathology; tumor marker; kidney neoplasms; sarcoma; fluorescence in situ hybridization; kidney tumor; cancer size; gene fusion; oncogene proteins, fusion; fluorescence microscopy; protein s 100; cell shape; synovial sarcoma; sarcoma, synovial; cytokeratin; octamer transcription factor 4; octamer transcription factor-3; soft tissue neoplasms; soft tissue tumor; pou5f1 protein, human; kidney vein; adrenal gland; molecular diagnosis; renal; tumor invasion; kidney sarcoma; humans; human; male; article; biomarkers, tumor; ss18::pou5f1; ss18 pou5f1 gene fusion |
| Journal Title: | Genes Chromosomes and Cancer |
| Volume: | 61 |
| Issue: | 9 |
| ISSN: | 1045-2257 |
| Publisher: | Wiley Periodicals, Inc |
| Date Published: | 2022-09-01 |
| Start Page: | 572 |
| End Page: | 577 |
| Language: | English |
| DOI: | 10.1002/gcc.23053 |
| PUBMED: | 35521683 |
| PROVIDER: | scopus |
| PMCID: | PMC9271602 |
| DOI/URL: | |
| Notes: | Article -- Export Date: 1 August 2022 -- Source: Scopus |
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