A case of FN1-fused calcified chondroid mesenchymal neoplasm of the hand with novel FGFR3 partner gene

Genes Chromosomes Cancer. 2023 Apr;62(4):237-241. doi: 10.1002/gcc.23115. Epub 2022 Dec 23.

Abstract

Calcified chondroid neoplasms with FN1::FGFR1 or FGFR2 fusions constitute a recently described category of mesenchymal neoplasms mostly encountered in the extremities and temporomandibular joint. Herein, we report a case of FNI1-fused calcified chondroid neoplasm of the hand with a novel FGFR3 fusion partner. The tumor exhibited a multilobulated growth pattern composed of epithelioid cells embedded in abundant stroma with myxoid, chondroid, and fibrous areas and scattered osteoclast-like giant cells. RNA sequencing revealed an in-frame fusion between Exon 31 of FN1 and Exon 3 of FGFR3, which was subsequently confirmed by reverse transcription-polymerase chain reaction. Our findings expand on the spectrum of potential fusion partners in FN1-fused calcified chondroid neoplasms.

Keywords: FGFR; FNI1; calcified; chondroid.

MeSH terms

  • Fibronectins / genetics
  • Humans
  • Neoplasms, Connective and Soft Tissue*
  • Receptor, Fibroblast Growth Factor, Type 3 / genetics

Substances

  • FGFR3 protein, human
  • Receptor, Fibroblast Growth Factor, Type 3
  • Fibronectins