Primary Renal Sarcoma With BCOR-CCNB3 Gene Fusion in an 18-Year-Old Male: A Rare Lesion With a Diagnostic Quandary

Int J Surg Pathol. 2021 Apr;29(2):194-197. doi: 10.1177/1066896920941087. Epub 2020 Jul 10.

Abstract

Primary renal sarcoma with BCOR-CCNB3 gene fusion is a rare tumor with only 7 cases reported in the English literature. The morphologic features of this tumor strikingly overlap with clear cell sarcoma of the kidney and synovial sarcoma. Accurate diagnosis can be challenging. In this article, we report a case of an 18-year-old male who presented with hematuria. Subsequent imaging study showed a left renal mass with level II (infra-hepatic) inferior vena cava thrombus, which was resected. Detailed pathologic findings and immunohistochemical and molecular studies revealed an ovoid to spindle cell renal mass with a BCOR-CCNB3 gene fusion.

Keywords: BCOR-CCNB3 gene fusion; primary renal sarcoma.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Cyclin B / genetics
  • Diagnosis, Differential
  • Humans
  • Kidney / diagnostic imaging
  • Kidney / pathology*
  • Kidney / surgery
  • Kidney Neoplasms / diagnosis*
  • Kidney Neoplasms / genetics
  • Kidney Neoplasms / pathology
  • Kidney Neoplasms / surgery
  • Magnetic Resonance Imaging
  • Male
  • Nephrectomy
  • Oncogene Proteins, Fusion / genetics*
  • Proto-Oncogene Proteins / genetics
  • Repressor Proteins / genetics
  • Sarcoma / diagnosis*
  • Sarcoma / genetics
  • Sarcoma / pathology
  • Sarcoma / surgery
  • Sequence Analysis, RNA

Substances

  • BCOR protein, human
  • CCNB3 protein, human
  • Cyclin B
  • Oncogene Proteins, Fusion
  • Proto-Oncogene Proteins
  • Repressor Proteins