scholarly journals Diagnostic Utility of Genetic and Immunohistochemical H3-3A Mutation Analysis in Giant Cell Tumour of Bone

2022 ◽  
Vol 23 (2) ◽  
pp. 969
Author(s):  
Michał Wągrodzki ◽  
Andrzej Tysarowski ◽  
Katarzyna Seliga ◽  
Aneta Wojnowska ◽  
Maria Stepaniuk ◽  
...  

To validate the reliability and implementation of an objective diagnostic method for giant cell tumour of bone (GCTB). H3-3A gene mutation testing was performed using two different methods, Sanger sequencing and immunohistochemical (IHC) assays. A total of 214 patients, including 120 with GCTB and 94 with other giant cell-rich bone lesions, participated in the study. Sanger sequencing and IHC with anti-histone H3.3 G34W and G34V antibodies were performed on formalin-fixed, paraffin-embedded tissues, which were previously decalcified in EDTA if needed. The sensitivity and specificity of the molecular method was 100% (95% CI: 96.97–100%) and 100% (95% CI: 96.15–100%), respectively. The sensitivity and specificity of IHC was 94.32% (95% CI: 87.24–98.13%) and 100% (95% CI: 93.94–100.0%), respectively. P.G35 mutations were discovered in 2/9 (22.2%) secondary malignant GCTBs and 9/13 (69.2%) GCTB after denosumab treatment. We confirmed in a large series of patients that evaluation of H3-3A mutational status using direct sequencing is a reliable tool for diagnosing GCTB, and it should be incorporated into the diagnostic algorithm. Additionally, we discovered IHC can be used as a screening tool. Proper tissue processing and decalcification are necessary. The presence of the H3-3A mutation did not exclude malignant GCTB. Denosumab did not eradicate the neoplastic cell population of GCTB.

2001 ◽  
Author(s):  
S Kiraz ◽  
D Altýnok ◽  
Ý Ertenli ◽  
MA Öztürk ◽  
S Apras ◽  
...  

1979 ◽  
Vol 40 (2) ◽  
pp. 201-209 ◽  
Author(s):  
K Kasahara ◽  
T Yamamuro ◽  
A Kasahara

1998 ◽  
Vol 80-B (1) ◽  
pp. 43-47 ◽  
Author(s):  
K. A. Siebenrock ◽  
K. K. Unni ◽  
M. G. Rock

2004 ◽  
Vol 14 (1) ◽  
pp. 40-41
Author(s):  
Roop Singh ◽  
Ashwini Sharma ◽  
N. K. Magu ◽  
Rajeev Mittal

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