H3.3 G34W突变抗体在骨巨细胞瘤中的表达及诊断价值  

Expression of H3.3 G34W mutant-specific antibody in giant cell tumors of bone and its diagnostic value

作　　者：王璇[1] 吴楠[1] 章如松[1] 魏雪[1] 吉荣浩 马恒辉[1] 周晓军 饶秋[1] Wang Xuan;Wu Nan;Zhang Rusong;Wei Xue;Ji Ronghao;Ma Henghui;Zhou Xiaojun;Rao Qiu(Department of Pathology,Medicine School of Nanjing University/Nanjing Jinling Hospital,Nanjing 210002,China)

机构地区：[1]解放军东部战区总医院(原南京军区南京总医院)病理科,210002

出　　处：《中华病理学杂志》2020年第2期116-121,共6页Chinese Journal of Pathology

基　　金：国家自然科学基金(81872095、81802557)。

摘　　要：目的探讨H3.3 G34W突变抗体在骨巨细胞瘤(GCTB)中的表达情况及其对GCTB诊断的作用。方法收集解放军东部战区总医院病理科2001年6月至2019年4月诊断的83例GCTB、18例动脉瘤样骨囊肿、23例软骨母细胞瘤和28例骨肉瘤病历资料,采用免疫组织化学EnVision法检测H3.3 G34W突变抗体和p63的表达情况。结果83例GCTB中,69例(69/83)显示H3.3 G34W阳性,阳性率为83.1%,H3.3 G34W染色仅见于单核肿瘤细胞的细胞核,呈弥漫强阳性表达。H3.3 G34W在57例发生于长骨的GCTB中表达的阳性率为96.5%(55/57),而在26例发生于非长骨的GCTB中阳性率仅为53.8%(14/26)。所有复发(9/9)或转移性GCTB(2/2)、denosumab治疗后GCTB(3/3)、原发性恶性GCTB(3/3)和继发性恶性GCTB(5/5)均为H3.3 G34W阳性。所有动脉瘤样骨囊肿和软骨母细胞瘤均为H3.3 G34W免疫组织化学染色阴性。28例骨肉瘤中,H3.3 G34W的阳性率为10.7%(3/28)。富于巨细胞的骨肉瘤(GCRO)是骨肉瘤中唯一表达H3.3 G34W的组织学亚型。p63在71.1%(59/83)的GCTB中表达,而在动脉瘤样骨囊肿、软骨母细胞瘤和骨肉瘤中的阳性比例分别为3/18、43.5%(10/23)和21.4%(6/28)。H3.3 G34W突变抗体在GCTB诊断中的灵敏度和特异度分别为83.1%和95.7%。结论H3.3 G34W突变抗体是诊断GCTB高度灵敏和特异的标志物,有助于与具有相似形态学的骨肿瘤的鉴别。该抗体的局限性是少数存在G34突变但不是G34W突变的GCTB不能被检测出。骨肉瘤中H3.3 G34W突变蛋白的偶然表达可能是一个潜在的诊断难题,该免疫组织化学结果需谨慎解释。Objective To investigate the expression of H3.3 G34W mutant-specific antibody in giant cell tumors of bone(GCTB),and its value in the diagnosis of GCTB.Methods Immunohistochemical(IHC)EnVision method was used to detect the expression of H3.3 G34W mutant-specific antibody and p63 in 83 GCTBs,18 aneurysmal bone cysts,23 chondroblastomas and 28 osteosarcomas diagnosed at Nanjing Jinling Hospital from June 2001 to April 2019.Results Among the 83 cases of GCTB,69 cases(69/83,83.1%)expressed H3.3 G34W.H3.3 G34W expression was found exclusively in the mononuclear cell population with strong and diffuse nuclear staining.H3.3 G34W was expressed in 55 of 57(96.5%)cases of GCTB in long bones,but only 14 of 26(53.8%)cases of non-long bone GCTB.All recurrent(9/9)/metastatic GCTB(2/2),post-denosumab GCTB(3/3),primary malignant GCTB(3/3)and secondary malignant GCTB(5/5)also expressed H3.3 G34W.H3.3 G34W was negative in all aneurysmal bone cysts and chondroblastomas.H3.3 G34W was positive in 3 of 28(10.7%)cases of osteosarcomas,and giant cell-rich osteosarcoma(GCRO)was the only histological subtype of osteosarcoma that expressed H3.3 G34W.p63 was expressed in 71.1%(59/83)of GCTB,while the positive rates of p63 in aneurysmal bone cysts,chondroblastomas and osteosarcomas were 3/18,43.5%(10/23)and 21.4%(6/28)respectively.The sensitivity and specificity of H3.3 G34W mutant-specific antibody in the diagnosis of GCTB were 83.1%and 95.7%.Conclusions H3.3 G34W mutant-specific antibody is a highly sensitive and specific marker for GCTB and helpful for the diagnosis of GCTB and its variants.The limitation of this antibody is that as a mall number of GCTB harbor G34 mutation other than G34W,and thus that cannot be detected.The incidental expression of H3.3 G34W mutant protein in osteosarcoma could be a potential diagnostic dilemma,and the results of H3.3 G34W IHC staining needs careful interpretation.

关 键 词：巨细胞瘤 骨 骨肉瘤 免疫组织化学 H3.3 G34W突变抗体 

分 类 号：R73[医药卫生—肿瘤]