摘要目的 探讨长骨釉质瘤临床病理学特征及鉴别诊断要点.方法 收集2012年6月至2018年5月南京医科大学第一附属医院7例长骨釉质瘤临床病理资料进行组织形态学、免疫组织化学分析,并复习相关文献.结果 7例釉质瘤患者男性6例,女性1例,年龄范围21~60岁,平均年龄38岁;发病部位右侧6例、左侧1例,其中胫骨5例、髌骨1例、肱骨1例;肿瘤主要由束状或编织状排列的梭形细胞为主,散在分布不规则的上皮细胞岛,梭形细胞和上皮样细胞均无明显异型性,免疫表型肿瘤细胞具有高相对分子质量细胞角蛋白特征,上皮与梭形成分均表达波形蛋白,而低相对分子质量细胞角蛋白CK8/18不表达,对1例上皮以梭形细胞为主的病例进行荧光原位杂交检测未出现SYT基因断裂重组.5例获得完整的随访资料,1例术后7个月腘窝转移,1例术后34个月复发,3例随访半个月至32个月未见复发和转移.结论 发生在长骨的釉质瘤罕见,正确的诊断需要充分的样本取材、仔细的形态学观察,以及免疫组织化学和分子遗传学检测等.

abstractsObjective To investigate the clinicopathological features and differential diagnosis of adamantinoma of long bone. Methods Seven cases of adamantinoma on long bone were selected at Jiangsu Province People′s Hospital from June 2012 to May 2018. Clinicopathologic details, immunohistochemical and molecular analysis were performed,and the relevant literature reviewed. Results There were 6 males and 1 female patients,age ranging from 21 to 60 years (mean 38 years). Six cases were on the right side and one case was on the left; in five cases the tumors arose from tibia, one from patella and one from humerus. Microscopically,tumour cells were mainly composed of spindle cells arranged in bundles or braids,with irregular epithelial island. Immunohistochemically,the epithelial island expressed high molecular weight cytokeratin but not CK8/18. Both epithelial and spindle components expressed vimentin. One case that was microscopically similar to intraosseous synovial sarcoma did not show SYT gene rearrangement. Clinical follow?up was available for five patients: one patient had axillary metastases seven months after operation, one patient had recurrence 34 months after surgery, 3 patients were uneventful with follow up duration from half a month to 32 months. Conclusion Adamantinoma occurring in long bones is very rare. The correct diagnosis requires adequate sample selection, careful morphologic observation, immunohistochemistry and molecular genetics.