Novel HMGA2::COL14A1 Fusion Identified in Xanthogranulomatous Epithelial Tumor/Keratin-Positive Giant Cell Tumor

Genes Chromosomes Cancer. 2024 Nov;63(11):e70010. doi: 10.1002/gcc.70010.

Abstract

Xanthogranulomatous epithelial tumor (XGET)/Keratin-positive giant cell tumor (KP-GCT) represents a spectrum of recently described neoplasms characterized by a proliferation of distinctive mononuclear cells expressing keratin within a background of osteoclast-like giant cells, mixed inflammatory cells, and a variably prominent xanthogranulomatous component. Recent studies demonstrated a recurrent HMGA2::NCOR2 fusion in many cases. We herein describe a case of XGET/KP-GCT arising in the right femoral head of a 19-year-old male harboring a rare novel HMGA2::COL14A1 fusion.

Keywords: COL14A1; HMGA2; Xanthogranulomatous epithelial tumor; keratin‐positive giant cell tumor.

Publication types

  • Case Reports

MeSH terms

  • Giant Cell Tumors* / genetics
  • Giant Cell Tumors* / metabolism
  • Giant Cell Tumors* / pathology
  • HMGA2 Protein* / genetics
  • HMGA2 Protein* / metabolism
  • Humans
  • Keratins / genetics
  • Keratins / metabolism
  • Male
  • Oncogene Proteins, Fusion / genetics
  • Young Adult

Substances

  • HMGA2 Protein
  • HMGA2 protein, human
  • Keratins
  • Oncogene Proteins, Fusion