Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, PA.
Department of Pathology, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA.
Pediatr Dev Pathol. 2021 May-Jun;24(3):258-263. doi: 10.1177/1093526621998869. Epub 2021 Mar 8.
Myoepithelial tumors of soft tissue are rare mesenchymal neoplasms that overlap with their salivary gland and skin counterparts at both the histopathologic and molecular levels. gene rearrangements with various fusion partners represent a common genetic event in myoepithelial tumors of soft tissue, whether benign or malignant, and may prove useful as a diagnostic tool in difficult cases. However, the number of diagnostic entities with gene rearrangements has grown considerably in recent years, and there is significant morphologic and immunophenotypic overlap amongst this group, underscoring the importance of fusion testing to detect fusion partners that are characteristic of discrete diagnostic entities. Herein, we report a malignant myoepithelial tumor of soft tissue/myoepithelial carcinoma with an undifferentiated round cell morphology arising in a pediatric patient with a gene fusion.
软组织的肌上皮肿瘤是罕见的间叶性肿瘤，在组织病理学和分子水平上与唾液腺和皮肤的对应物重叠。基因重排与各种融合伙伴的存在是软组织肌上皮肿瘤的一个常见遗传事件，无论是良性还是恶性，并且可能在困难病例中作为诊断工具证明有用。然而，近年来具有基因重排的诊断实体数量显著增加，并且在这群中存在显著的形态和免疫表型重叠，强调了融合检测的重要性，以检测与离散诊断实体特征相关的融合伙伴。在此，我们报告了一例发生于儿科患者的软组织恶性肌上皮肿瘤/肌上皮癌，具有未分化的圆形细胞形态，伴有基因融合。
