Detection of mesenchymal chondrosarcoma in pleural effusion with immunocytochemistry and determination of HEY1::NCOA2 fusion by next-generation sequencing on cell block

Cytopathology. 2024 Jan;35(1):149-152. doi: 10.1111/cyt.13296. Epub 2023 Sep 9.

Abstract

Mesenchymal chondrosarcoma (MC) is a rare but extremely aggressive type of chondrosarcoma distinguished by the presence of both primitive mesenchymal cells and fully developed chondroid tissue. The identification of a biphasic morphology in pleural effusion, along with detection of the HEY1::NCOA2 fusion using next-generation sequencing, serve as vital indicators for an accurate diagnosis.

Publication types

  • Case Reports

MeSH terms

  • Basic Helix-Loop-Helix Transcription Factors / genetics
  • Basic Helix-Loop-Helix Transcription Factors / metabolism
  • Bone Neoplasms*
  • Cell Cycle Proteins
  • Chondrosarcoma, Mesenchymal* / diagnosis
  • Chondrosarcoma, Mesenchymal* / genetics
  • Chondrosarcoma, Mesenchymal* / metabolism
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Immunohistochemistry
  • Nuclear Receptor Coactivator 2 / metabolism
  • Pleural Effusion*

Substances

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