H3F3A G34W免疫组织化学染色在骨巨细胞瘤诊断中的应用价值

The study of the value of H3F3A G34W immunohistochemical staining in the diagnosis of giant cell tumor of bone

目的探讨H3F3A G34W免疫组织化学染色在骨巨细胞瘤诊断中的作用。方法收集2016至2018年上海交通大学附属第六人民医院骨巨细胞瘤136例,普通型骨肉瘤31例,富于巨细胞骨肉瘤3例,棕色瘤3例,软骨母细胞瘤34例,腱鞘巨细胞瘤29例,动脉瘤样骨囊肿20例,非骨化性纤维瘤19例。运用免疫组织化学染色方法检测这些肿瘤中H3F3A G34W的表达情况。结果136例骨巨细胞瘤中,男性82例,女性54例,年龄范围15~72岁,中位年龄38岁。87.5%(119/136)的骨巨细胞瘤呈H3F3A G34W免疫组织化学染色阳性,3.2%(1/31)的普通型骨肉瘤呈H3F3A G34W免疫组织化学染色阳性,其余软骨母细胞瘤、腱鞘巨细胞瘤、动脉瘤样骨囊肿、棕色瘤、富于巨细胞骨肉瘤、非骨化性纤维瘤均呈H3F3A G34W免疫组织化学染色阴性。结论H3F3A G34W特异性抗体是骨巨细胞瘤较敏感和特异的生物学指标,为骨巨细胞瘤的诊断与鉴别诊断提供新的帮助,推荐在常规工作中使用;同时对于临床、病理、影像符合骨巨细胞瘤诊断而H3F3A G34W特异性抗体阴性的病例进一步行分子检测是否为少见突变或野生型。

Objective To investigate the diagnostic role of H3F3A G34W immunohistochemistry in giant cell tumor of bone. Methods A total of 275 tumors were collected from 2016 to 2018 at Shanghai Jiaotong University Affiliated Sixth People′s Hospital, including 136 giant cell tumors of bone, 31 general osteosarcomas, 3 osteoclast-rich osteosarcomas, 3 brown tumors, 34 chondroblastomas, 29 giant cell tumors of tendon sheath, 20 primary arteromatoid bone cysts and 19 non-ossifying fibromas. Results Among the 136 cases of giant cell tumor of bone,82 patients were male and 54 were female. The age ranged from 15 to 72 years (median age 38 years). Nuclear positivity for H3F3A G34W was seen in 119/136(87.5%) giant cell tumors of bone and 1/31(3.2%) general osteosarcoma,while all osteoclast-rich osteosarcomas, brown tumors, chondroblastomas, giant cell tumors of tendon sheath, primary arteromatoid bone cysts and non-ossifying fibroma were negative. Conclusions The monoclonal antibody against the G34W mutated site of H3F3A is a specific biomarker for giant cell tumor of bone and useful for the diagnosis and differential diagnosis of giant cell tumor of bone. Meanwhile,for those cases in which giant cell tumor of bone are diagnosed basing on clinical,pathologic and radiographic features but are negative for H3F3A G34W,should be tested for rare mutations or H3F3A wild type.