Superficial acral calcified chondroid mesenchymal neoplasm harboring an FN1::FGFR2 fusion and review of the literature Review


Authors: Machado, I.; Damaskou, V.; Ioannidis, E.; Jour, G.; Linos, K.
Review Title: Superficial acral calcified chondroid mesenchymal neoplasm harboring an FN1::FGFR2 fusion and review of the literature
Abstract: 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. © 2024 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Keywords: exon; genetics; exons; case report; gene fusion; giant cell; soft tissue neoplasms; soft tissue tumor; fibroblast growth factor receptor 2; receptor, fibroblast growth factor, type 2; epithelioid cells; giant cells; superficial; fgfr2; humans; human; acral; fgfr2 protein, human; fn1; epithelioid histiocyte; calcified chondroid mesenchymal neoplasm
Journal Title: Journal of Cutaneous Pathology
Volume: 51
Issue: 5
ISSN: 0303-6987
Publisher: John Wiley & Sons  
Date Published: 2024-05-01
Start Page: 338
End Page: 344
Language: English
DOI: 10.1111/cup.14593
PUBMED: 38328983
PROVIDER: scopus
PMCID: PMC11001517
DOI/URL:
Notes: The MSK Cancer Center Support Grant (P30 CA008748) is acknowledged in the PubMed record and PDF. Corresponding MSK author is Konstantinos Linos -- Source: Scopus
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  1. Konstantinos Linos
    53 Linos