Diagnostic Utility of Genetic and Immunohistochemical H3-3A Mutation Analysis in Giant Cell Tumour of Bone.
Diagnostic Utility of Genetic and Immunohistochemical H3-3A Mutation Analysis in Giant Cell Tumour of Bone.
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DOI：
10.3390/ijms23020969
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发表时间：
2022-01-16
影响因子：
5.6
通讯作者：
Rutkowski P
中科院分区：
文献类型：
--
作者：
Wągrodzki M;Tysarowski A;Seliga K;Wojnowska A;Stepaniuk M;Castañeda Wysocka P;Makuła D;Pieńkowski A;Szostakowski B;Zub R;Rutkowski P
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.
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DOI：
10.1016/j.ecl.2017.01.009
发表时间：
2017-06-01
影响因子：
4.5
作者：
Toledo, Rodrigo Almeida
通讯作者：
Toledo, Rodrigo Almeida
影响因子：
--
作者：
Koelsche, Christian;Schrimpf, Daniel;Mechtersheimer, Gunhild
通讯作者：
Mechtersheimer, Gunhild
影响因子：
30.8
作者：
Behjati, Sam;Tarpey, Patrick S.;Presneau, Nadege;Scheipl, Susanne;Pillay, Nischalan;Van Loo, Peter;Wedge, David C.;Cooke, Susanna L.;Gundem, Gunes;Davies, Helen;Nik-Zainal, Serena;Martin, Sancha;McLaren, Stuart;Goodie, Victoria;Robinson, Ben;Butler, Adam;Teague, Jon W.;Halai, Dina;Khatri, Bhavisha;Myklebost, Ola;Baumhoer, Daniel;Jundt, Gernot;Hamoudi, Rifat;Tirabosco, Roberto;Amary, M. Fernanda;Futreal, P. Andrew;Stratton, Michael R.;Campbell, Peter J.;Flanagan, Adrienne M.
通讯作者：
Flanagan, Adrienne M.
影响因子：
5.3
作者：
Liede, Alexander;Bach, Bruce Allen;Wong, Steven S.
通讯作者：
Wong, Steven S.
影响因子：
1.6
作者：
Grizzle, W. E.
通讯作者：
Grizzle, W. E.