Primary renal sarcoma with SS18::POU5F1 gene fusion

Pedram Argani, Andres Matoso, John M. Gross, Yanming Zhang, Jeffrey A. SoRelle, Jeffrey Gagan, Cristina R. Antonescu, Doreen Palsgrove

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
JournalGenes Chromosomes and Cancer
DOIs
StateAccepted/In press - 2022

Keywords

  • renal
  • sarcoma
  • SS18::POU5F1

ASJC Scopus subject areas

  • Genetics
  • Cancer Research

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