1. Epithelioid Fibrous Histiocytoma with CARS-ALK Fusion: First Case Report
- Author
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UCL - (SLuc) Service d'anatomie pathologique, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - (SLuc) Service de dermatologie, UCL - (SLuc) Centre de génétique médicale UCL, Secco, Léo-Paul, Libbrecht, Louis, Seijnhaeve, Elsa, Eggers, Silke, Dekairelle, Anne-France, De Roo, An-Katrien, UCL - (SLuc) Service d'anatomie pathologique, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - (SLuc) Service de dermatologie, UCL - (SLuc) Centre de génétique médicale UCL, Secco, Léo-Paul, Libbrecht, Louis, Seijnhaeve, Elsa, Eggers, Silke, Dekairelle, Anne-France, and De Roo, An-Katrien
- Abstract
Epithelioid fibrous histiocytoma (EFH) is a type of uncommon skin tumor mostly harboring Anaplastic Lymphoma Kinase (ALK) gene rearrangement, with different fusion partners reported. Whether this tumor is a separate entity or has a relationship with conventional fibrous histiocytomas is still a matter of debate. Benign course is the rule after complete surgical excision. A rare subtype of EFH with fusiform cells has been described, with specific fusion partners. Inflammatory myofibroblastic tumor (IMT) is a type of soft tissue tumor rarer than EFH, and it can display distant metastases. Some cases of primary cutaneous IMT included two with Cysteinyl-tRNA Synthetase 1 (CARS)-ALK rearrangement. IMT can have the same fusion partners as EFH, such as DCTN1, TMP3 or EML4 genes. We report the case of a 42-year-old woman presenting EFH with fusiform morphology harboring CARS-ALK fusion and discuss similarities and differences with IMT.
- Published
- 2023