A case of FN1-fused calcified chondroid mesenchymal neoplasm of the hand with novel FGFR3 partner gene.
Natalia GeorgantzoglouGuomiao ShenGeorge JourKonstantinos D LinosPublished in: Genes, chromosomes & cancer (2022)
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.
Keyphrases
- induced apoptosis
- cell cycle arrest
- stem cells
- bone marrow
- single cell
- low grade
- hiv testing
- endoplasmic reticulum stress
- oxidative stress
- transcription factor
- genome wide
- signaling pathway
- cell death
- copy number
- cell proliferation
- dna methylation
- high grade
- human health
- hiv infected
- climate change
- bone loss
- human immunodeficiency virus