Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China.
Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China.
Exp Mol Pathol. 2019 Oct;110:104291. doi: 10.1016/j.yexmp.2019.104291. Epub 2019 Jul 31.
We present a case of EWSR1-SMAD3 positive fibroblastic tumor that occurred in a 24-year-old man who presented with a recurrent tumor in the dorsum of his right foot. Magnetic resonance imaging (MRI) demonstrated a subcutaneous nodule located in the third metatarsophalangeal joint region, measuring 10 × 8 × 5 mm in size. Histological examination revealed a monomorphic spindle cell tumor composed of cellular fascicles of bland fibroblasts with hyalinization. Immunohistochemically, the tumor showed diffuse nuclear staining of ERG. Fluorescence in situ hybridization (FISH) assessment demonstrated an unbalanced rearrangement of the EWSR1 gene. Further next-generation sequencing (NGS) analysis identified EWSR1-SMAD3 gene fusion. Molecular detection may be helpful for identifying new entities, in particular to those that lack lineage-specific differentiation by conventional pathological examinations.
我们报告了一例 EWSR1-SMAD3 阳性纤维母细胞瘤，发生于 24 岁男性，其右脚背部出现复发性肿瘤。磁共振成像（MRI）显示位于第三跖趾关节区域的皮下结节，大小为 10×8×5mm。组织学检查显示由细胞性纤维母细胞束组成的单一形态性梭形细胞瘤，伴有玻璃样变性。免疫组化显示 ERG 弥漫性核染色。荧光原位杂交（FISH）评估显示 EWSR1 基因的不平衡重排。进一步的下一代测序（NGS）分析确定了 EWSR1-SMAD3 基因融合。分子检测可能有助于识别新实体，特别是对于那些通过常规病理检查缺乏谱系特异性分化的实体。
