Mesenchymal chondrosarcoma diagnosed on FISH for HEY1-NCOA2 fusion gene

Pediatr Int. 2014 Oct;56(5):e55-7. doi: 10.1111/ped.12407.

Abstract

Mesenchymal chondrosarcoma (MC) is an extremely rare subtype of chondrosarcoma that has a small round-cell sarcoma with focal cartilaginous differentiation, often with a pericytomatous vascular pattern. The non-cartilaginous components are usually dominant, and such lesions might be confused with other small round-cell tumors. Recently, a tumor-specific HEY1-NCOA2 fusion gene was identified in MC. Here we report the case of a 9-year-old boy who was diagnosed with MC by detection of HEY1-NCOA2 fusion signals in almost 50% of tumor cells in tissue sections on fluorescence in situ hybridization (FISH). In this way, the tumor was definitively diagnosed as MC. This case suggests that the detection of the HEY1-NCOA2 fusion gene on FISH is of diagnostic value for MC.

Keywords: HEY1-NCOA2 fusion gene; fluorescence in situ hybridization; mesenchymal chondrosarcoma.

Publication types

  • Case Reports

MeSH terms

  • Basic Helix-Loop-Helix Transcription Factors / genetics*
  • Bone Neoplasms / diagnosis*
  • Bone Neoplasms / genetics*
  • Cell Cycle Proteins / genetics*
  • Child
  • Chondrosarcoma, Mesenchymal / diagnosis*
  • Chondrosarcoma, Mesenchymal / genetics*
  • Gene Fusion*
  • Humans
  • In Situ Hybridization, Fluorescence*
  • Male
  • Nuclear Receptor Coactivator 2 / genetics*
  • Tibia*

Substances

  • Basic Helix-Loop-Helix Transcription Factors
  • Cell Cycle Proteins
  • HEY1 protein, human
  • NCOA2 protein, human
  • Nuclear Receptor Coactivator 2