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Uncovering the WWTR1::NCOA2 Gene fusion in low-grade myoepithelial-rich neoplasm with HMGA2 expression: A case report.

Ziyad AlsugairDaniel PissalouxFrançoise DescotesFranck TirodeJonathan LopezJimmy PerrotAriane LapierreMaxime FieuxPierre PhilouzeAnne ChampagnacMihaela OneaNazim Benzerdjeb
Published in: Genes, chromosomes & cancer (2024)
We describe a case of a pleomorphic adenoma (PA) arising from the para-tracheal accessory salivary gland in a 44-year-old male harboring a novel WWTR1::NCOA2 gene fusion. To our knowledge, this novel gene fusion has not been described previously in salivary gland tumors. The patient presented with hoarseness of voice. The radiological exam revealed a mass in the upper third of the trachea involving the larynx. Histologically, the tumor consisted of bland-looking monocellular eosinophilic epithelial cells arranged in cords and sheets separated by thin fibrous stroma, focally forming a pseudo-tubular pattern. In immunohistochemistry, the tumor cells demonstrated positivity for CK7, PS100, SOX10, and HMGA2; and negativity for CK5/6, p40 p63, and PLAG1. In addition, the clustering analysis clearly demonstrates a clustering of tumors within the PA group. In addition to reporting this novel fusion in the PA spectrum, we discuss the relevant differential diagnoses and briefly review of NCOA2 and WWTR1 gene functions in normal and neoplastic contexts.
Keyphrases
  • low grade
  • copy number
  • genome wide
  • genome wide identification
  • high grade
  • single cell
  • stem cells
  • poor prognosis
  • emergency department
  • gene expression
  • rna seq
  • case report
  • long non coding rna
  • data analysis