Cutaneous syncytial myoepithelioma with folliculocentric growth and EWSR1 gene rearrangement: A case report. (12th March 2023)

• Record Type: Journal Article
• Authors: Nagayasu, Mayumi Akaki; Tanaka, Hiroyuki; Nogami, Kyoko; Kukita, Yoji; Nakamura, Harumi; Motoi, Toru; Manabe, Toshiaki; Kataoka, Hiroaki
• Is Part Of: Journal of cutaneous pathology. Volume 50:Number 5(2023)
• Page Start: 400
• Page End: 404
• Publication Date: 2023-03-12
• Subjects: cutaneous syncytial myoepithelioma -- Ewing sarcoma breakpoint region 1 -- hair follicle; Skin -- Diseases -- Periodicals; Dermatology -- Periodicals; 616
• DOI: 10.1111/cup.14419
• Languages: English
• ISSNs: 0303-6987

Abstract

Abstract: Cutaneous syncytial myoepithelioma is a tumor type that was initially reported in 2013 as a syncytial variant of cutaneous myoepithelioma characterized by intradermal nodular proliferation of oval to spindle‐shaped tumor cells in solid and syncytial patterns. Fusion of genes Ewing sarcoma breakpoint region 1 / EWS RNA binding protein 1 ( EWSR1 ) and pre‐B cell leukemia homeobox 3 ( PBX3 ) is found in approximately 90% of the cases. We report a case of cutaneous syncytial myoepithelioma with diagnostic difficulty due to folliculocentric morphology and atypical immunohistochemical results, including diffuse positivity of α‐smooth muscle actin and claudin 4 and negative immunoreactions for epithelial membrane antigen and S100 protein. In the present case, fluorescence in situ hybridization study demonstrated EWSR1 rearrangement. We further provide a discussion of differential diagnoses with a review of relevant literature.