Department of Pathology, Instituto Valenciano de Oncología, Patologika Laboratory Hospital Quirón-Salud, Valencia, Spain.
Pathology Department, University of Valencia, Valencia, Spain.
J Cutan Pathol. 2024 May;51(5):338-344. doi: 10.1111/cup.14593. Epub 2024 Feb 8.
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.
骨和软组织的钙化性软骨样间叶性肿瘤是一种新近被认识的疾病实体,主要发生于四肢和颞下颌关节。该肿瘤通常是由 FN1 基因与激酶融合驱动的。在本病例报告中,我们详细描述了一例位于左大足趾的罕见表浅性钙化性软骨样间叶性肿瘤,其特征为 FN1::FGFR2 融合。肿瘤表现为周边领圈状,由大的真皮组织细胞样到上皮样细胞组成,无有丝分裂活性。这些细胞显示细的染色质和丰富的淡嗜酸性细胞质,形成漩涡状合体细胞。它们与局部玻璃样软骨黏液样基质区交替存在,其中含有随机矿化的钙化物质和孤立的破骨样巨细胞。RNA 测序证实存在 FN1(外显子 29)::FGFR2(外显子 7)基因融合。我们的报告强调了皮肤科病理学家在评估具有间叶性、软骨样和钙化性特征的表浅病变时,考虑这一实体的重要性。