Expression of H3.3 G34W mutant-specific antibody in giant cell tumors of bone and its diagnostic value
10.3760/cma.j.issn.0529-5807.2020.02.003
- VernacularTitle: H3.3 G34W突变抗体在骨巨细胞瘤中的表达及诊断价值
- Author:
Xuan WANG
1
;
Nan WU
;
Rusong ZHANG
;
Xue WEI
;
Ronghao JI
;
Henghui MA
;
Xiaojun ZHOU
;
Qiu RAO
Author Information
1. Department of Pathology, Medicine School of Nanjing University/Nanjing Jinling Hospital, Nanjing 210002, China
- Publication Type:Journal Article
- Keywords:
Giant cell tumor of bone;
Osteosarcoma;
Immunohistochemistry;
H3.3 G34W
- From:
Chinese Journal of Pathology
2020;49(2):116-121
- CountryChina
- Language:Chinese
-
Abstract:
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.