软骨母细胞瘤中H3.3组蛋白基因突变检测及其临床意义  

Detection of H3.3 histone gene mutation in chondroblastoma and its clinical significance

作　　者：罗威 董金波 古家美 王芳[2] 吴小延[2] LUO Wei;DONG Jinbo;GU Jiamei;WANG Fang;WU Xiaoyan(Department of Medical Imaging,Sun Yat Sen University Cancer Center,Guangzhou 510060,Guangdong,China;Department of Molecular Diagnosis,Sun Yat Sen University Cancer Center,Guangzhou 510060,Guangdong,China)

机构地区：[1]中山大学肿瘤防治中心影像科,广州5100600 [2]中山大学肿瘤防治中心分子诊断科,广州5100600

出　　处：《癌症进展》2023年第2期134-137,共4页Oncology Progress

基　　金：国家自然科学基金(81602468);广东省基础与应用基础研究基金(2020A1515010313、2017A030310192);中山大学青年教师培育项目(17ykpy84)。

摘　　要：目的 分析H3.3组蛋白(H3F3)基因在软骨母细胞瘤(CB)与其他骨肿瘤中的突变情况,并探讨其与临床特征的关系。方法 选取31例CB和50例其他骨肿瘤的肿瘤组织。采用Sanger测序法检测所有肿瘤组织中的H3F3基因突变情况,并分析H3F3基因突变与CB患者临床特征的关系。结果 31例CB中H3F3基因突变阳性率为80.6%,其他骨肿瘤均未检出H3F3基因突变。不同H3F3基因突变状态的CB患者性别、年龄、肿瘤部位、肿瘤直径比较,差异均无统计学意义(P﹥0.05)。结论 H3F3基因突变在CB中有较高的独特性,可用于诊断CB并与其他骨肿瘤进行鉴别诊断。Objective To analyze the mutation of H3.3 histone(H3F3) gene in chondroblastoma(CB) and other bone tumors, and to explore its relationship with clinical characteristics. Method A total of 31 cases of CB and 50 cases of other bone tumors were selected. Sanger sequencing was used to detect H3F3 gene mutation in all tumor tissues and analyze the relationship between H3F3 gene mutation and clinical characteristics of CB. Result The positive rate of H3F3gene mutation in 31 cases of CB was 80.6%, and no H3F3 gene mutation was detected in other bone tumors. There were no significant differences for the gender, age, tumor location and tumor diameter in CB patients with different status of H3F3 gene mutation(P>0.05). Conclusion H3F3 gene mutation has significant specificity in CB, which can be used as a differential diagnosis method for CB and other bone tumors.

关 键 词：软骨母细胞瘤 H3.3组蛋白 基因突变 临床特征 

分 类 号：R738.1[医药卫生—肿瘤]