Institute of Medical Genetics and Pathology, University Hospital of Basel, University of Basel, Schönbeinstrasse 40, CH-4031, Basel, Switzerland.
Institute of Pathology Dianapath, Geneva, Switzerland.
Virchows Arch. 2021 Nov;479(5):1031-1036. doi: 10.1007/s00428-021-03026-4. Epub 2021 Jan 28.
Myoepithelial neoplasms of soft tissue are rare tumors with clinical, morphological, immunohistochemical, and genetic heterogeneity. The morphological spectrum of these tumors is broad, and the diagnosis often requires immunostaining to confirm myoepithelial differentiation. Rarely, tumors show a morphology that is typical for myoepithelial neoplasms, while the immunophenotype fails to confirm myoepithelial differentiation. For such lesions, the term "myoepithelioma-like" tumor was introduced. Recently, two cases of myoepithelioma-like tumors of the hands and one case of the foot were described with previously never reported OGT-FOXO gene fusions. Here, we report a 50-year-old woman, with a myoepithelial-like tumor localized in the soft tissue of the forearm and carrying a OGT-FOXO1 fusion gene. Our findings extend the spectrum of mesenchymal tumors involving members of the FOXO family of transcription factors and point to the existence of a family of soft tissue tumors that carry the gene fusion of the OGT-FOXO family.
软组织肌上皮肿瘤是一种罕见的肿瘤，具有临床、形态学、免疫组化和遗传异质性。这些肿瘤的形态谱很广泛，诊断通常需要免疫组化染色来确认肌上皮分化。罕见情况下，肿瘤表现出典型的肌上皮肿瘤形态，而免疫表型未能确认肌上皮分化。对于此类病变，引入了“肌上皮瘤样”肿瘤的术语。最近，描述了手部的两例肌上皮瘤样肿瘤和一例足部的病例，这些病例具有以前从未报道过的 OGT-FOXO 基因融合。在这里，我们报告了一例 50 岁女性，前臂软组织内有一个肌上皮瘤样肿瘤，携带 OGT-FOXO1 融合基因。我们的发现扩展了涉及 FOXO 家族转录因子成员的间叶性肿瘤谱，并指出存在一类携带 OGT-FOXO 家族基因融合的软组织肿瘤。
