软骨母细胞瘤样骨肉瘤穿刺标本免疫组化H3F3B、IMP3、Clusterin联合H3F3B基因突变检测的意义

Significance of Immunohistochemical Detection of H3F3B,IMP3,Clusterin and H3F3B Gene Mutation in Puncture Specimens of Chondroblastoma-like Osteosarcoma

目的 探讨免疫组化H3F3B、IMP3、Clusterin联合H3F3B基因突变检测在软骨母细胞瘤样骨肉瘤诊断及鉴别诊断中的应用价值。方法 收集佛山市中医院病理科2008年1月-2020年12月确诊的22例软骨母细胞瘤样骨肉瘤及25例软骨母细胞瘤的穿刺标本及对应的手术切除标本,应用免疫组化方法行H3F3B、IMP3及Clusterin检测,观察它们在肿瘤细胞的表达情况,对H3F3B阳性的软骨母细胞瘤样骨肉瘤行H3F3B基因突变检测,分析其突变情况。结果 IMP3在22例软骨母细胞瘤样骨肉瘤呈弥漫阳性,在25例软骨母细胞瘤均呈阴性;H3F3B在21例软骨母细胞瘤样骨肉瘤中呈阴性或散在弱阳性,1例为弥漫阳性;H3F3B在25例软骨母细胞瘤呈弥漫阳性;H3F3B阳性的软骨母细胞瘤样骨肉瘤均无H3F3B基因突变;Clusterin在22例软骨母细胞瘤样骨肉瘤及25例软骨母细胞瘤中呈灶状阳性或阴性。结论 H3F3B阴性、IMP3弥漫阳性支持软骨母细胞瘤样骨肉瘤的诊断;H3F3B弥漫阳性、IMP3阴性支持软骨母细胞瘤的诊断;H3F3B及IMP3均阳性更倾向软骨母细胞瘤样骨肉瘤的诊断。基因突变检测及免疫组化检测在H3F3B阳性的软骨母细胞瘤样骨肉瘤中缺乏一致性。

Objective To investigate the value of immunohistochemical detection of H3F3B,IMP3,Clusterin and H3F3B gene mutations in the diagnosis and differential diagnosis of chondroblastoma-like bone tumors.Methods The puncture specimens and corresponding surgical resection specimens of 22 cases of chondroblastoma-like osteosarcoma and 25 cases of chondroblastoma diagnosed in the Department of Pathology,Foshan Hospital of Traditional Chinese Medicine from January 2008 to December 2020 were collected.H3F3B,IMP3 and Clusterin were detected by immunohistochemistry to observe their expression in tumor cells.H3F3B gene mutation detection was performed on H3F3B-positive chondroblastomalike osteosarcoma to analyze its mutation.Results IMP3 was diffusely positive in 22 cases of chondroblastoma-like osteosarcoma and negative in 25 cases of chondroblastoma.H3F3B was negative or scattered weakly positive in 21 cases of chondroblastoma-like osteosarcoma,and 1 case was diffusely positive.H3F3B was diffusely positive in 25 cases of chondroblastoma.H3F3B-positive chondroblastoma-like osteosarcoma had no H3F3B gene mutation;Clusterin was focally positive or negative in 22 cases of chondroblastoma-like osteosarcoma and 25 cases of chondroblastoma.Conclusion H3F3B negative and IMP3 diffuse positive support the diagnosis of chondroblastoma-like osteosarcoma.H3F3B diffuse positive,IMP3 negative support the diagnosis of chondroblastoma;both H3F3B and IMP3 positive were more inclined to the diagnosis of chondroblastoma-like osteosarcoma.Gene mutation detection and immunohistochemical detection lack consistency in H3F3B-positive chondroblastoma-like osteosarcoma.