Superficial acral calcified chondroid mesenchymal neoplasm harboring an FN1::FGFR2 fusion and review of the literature.
Isidro MachadoVasileia DamaskouEleftherios IoannidisGeorge JourKonstantinos D LinosPublished in: Journal of cutaneous pathology (2024)
Calcified chondroid mesenchymal neoplasm is a recently recognized bone and soft tissue entity primarily found in the extremities and the temporomandibular joint. This neoplasm is typically driven by the fusion of the FN1 gene with a kinase. In this case report, we provide a detailed account of a rare superficial calcified chondroid mesenchymal neoplasm located on the left big toe, characterized by an FN1::FGFR2 fusion. The tumor exhibited a peripheral collarette and consisted of large intradermal histiocytoid to epithelioid cells with no mitotic activity. These cells displayed fine chromatin and abundant pale eosinophilic cytoplasm, forming a swirling syncytium. They were interspersed with localized areas of glassy chondromyxoid matrix containing randomly mineralized calcific material and isolated osteoclast-like giant cells. RNA sequencing confirmed the presence of an FN1 (exon 29)::FGFR2 (exon 7) gene fusion. Our report emphasizes the importance for dermatopathologists to consider this entity when evaluating superficial lesions displaying mesenchymal, chondroid, and calcified attributes.
Keyphrases
- induced apoptosis
- stem cells
- bone marrow
- soft tissue
- cell cycle arrest
- low grade
- case report
- genome wide
- gene expression
- signaling pathway
- machine learning
- copy number
- endoplasmic reticulum stress
- bone mineral density
- big data
- transcription factor
- tyrosine kinase
- postmenopausal women
- high grade
- artificial intelligence
- bone regeneration