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

Author:

Machado Isidro123ORCID,Damaskou Vasileia4,Ioannidis Eleftherios5,Jour George6,Linos Konstantinos7ORCID

Affiliation:

1. Department of Pathology Instituto Valenciano de Oncología, Patologika Laboratory Hospital Quirón‐Salud Valencia Spain

2. Pathology Department University of Valencia Valencia Spain

3. Cancer CIBER (CIBERONC) Madrid Spain

4. 2nd Department of Pathology National and Kapodistrian University of Athens, School of Medicine, “Attikon” University Hospital Athens Greece

5. “Total Skin Dermatology” Clinic Athens Greece

6. Department of Pathology and Dermatology New York School of Medicine New York USA

7. Department of Pathology & Laboratory Medicine Memorial Sloan Kettering Cancer Center New York USA

Abstract

AbstractCalcified 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.

Funder

Memorial Sloan-Kettering Cancer Center

Publisher

Wiley

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