恶性潜能未定的血管球瘤临床病理及分子遗传学分析

Clinicopathological and molecular genetic analysis of glomus tumor of uncertain malignant potential

目的 探讨恶性潜能未定的血管球瘤(glomus tumor of uncertain malignant potential, GT-UMP)的临床病理、分子遗传学特征、诊断及鉴别诊断。方法 回顾性分析7例GT-UMP的临床病理资料,行免疫组化染色、PCR及FISH检测,并复习相关文献。结果 7例GT-UMP发生于胃壁5例,主气管1例,右小腿皮下1例。临床表现为占位引起的相关症状及影像学表现。镜下见肿瘤在黏膜下层、肌间浸润性生长,呈丛状及巢片状分布,细胞围绕血管呈血管外皮瘤样排列,周围可见基膜样物质,细胞密度中等,细胞大小一致,核圆形,胞质透明,部分嗜酸性,未见明显异型性及核分裂象。免疫表型:SMA、CollageⅣ、actin、Calponin、H-caldesmon均阳性。FISH检测:7例均检测到NOTCH2-MIR143基因融合。BRAF V600E突变检测:野生型。结论 GT-UMP具有血管外皮瘤样的组织结构、浸润性生长模式及低级别的细胞学特征,掌握其诊断标准,并辅助免疫组化及NOTCH-MIR143融合基因检测有助于诊断及鉴别诊断。

Purpose To investigate the clinicopathological, molecular features, diagnosis and differential diagnosis of glomus tumor of uncertain malignant potential(GT-UMP). Methods Seven cases of GT-UMP were collected and analyzed by immunohistochemistry, PCR and FISH. The relevant literatures were reviewed. Results Among the 7 cases of GT-UMP, 5 tumors were located in the stomach wall, 1 in the main trachea, and 1 case occurred under the skin of the right calf. The clinical manifestations were related symptoms and imaging manifestations caused by the space occupation. Microscopically, the tumor growed invasively in the submucosa and between the muscles, which composed of nests and sheets of cell. The tumor nests were surrounded by thin-walled vessels and fibrous stroma. The tumor had moderate cell density, uniform cell size, round or oval nuclei, transparent cytoplasm, and eosinophilic cytoplasm in a few cells, with no obvious atypia and nuclear mitosis. The immunohistochemical staining were positive for SMA,CollageⅣ,actin,Calponin,and H-caldesmon. NOTCH2-MIR143 fusion gene were positive in 7 cases by FISH analysis. BRAF V600E was detected and all of which were wild type. Conclusion GT-UMP has hemangiopericytoma-like histological structure,invasive growth pattern and low-grade cytological characteristics. Immunohistochemistry and NOTCH-MIR143 fusion gene detection are helpful for its diagnosis and differential diagnosis.