Diagnostic value of H3F3A mutation and clinicopathological features of giant cell tumours in non-long bones.
Diagnostic value of H3F3A mutation and clinicopathological features of giant cell tumours in non-long bones.
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DOI：
10.1016/j.jbo.2022.100467
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发表时间：
2023-03
影响因子：
3.4
通讯作者：
Liu, Zhiyan
中科院分区：
文献类型：
--
作者：
Luo, Yanli;Tang, Juan;Huang, Jin;Hu, Dingjun;Bai, Yueqing;Chen, Jie;Sun, Keyang;Zhang, Huizhen;Liu, Zhiyan
H3F3A mutation is a useful diagnostic marker for GCTB in non-long bones. GCTB of non-long bones have a female preference. G34L/V/R mutations are more frequent in younger patients. A histone H3F3A (H3.3) mutation involving a substitution in H3.3 G34 recently has been reported in GCTB within the frequency range (from 69 % to 96 %) and is a helpful diagnostic indicator of GCTB. However, the relationship between H3F3A mutations and the clinicopathological feature of GCTB involving non-long bones (irregular bones and small bones) is unclear. H3F3A mutations were observed in a cohort of specimens (230 samples of GCTB) using immunohistochemistry and Sanger sequencing. The relationship between H3F3A mutations and the clinicopathological characteristics of patients with GCTB occurring in the non-long bones of the appendicular skeleton was investigated. No significant difference between H3F3A mutations in GCTB arising in non-long bones and the classic sites was found (P = 0.483). GCTB in non-long bones occurred more common in female (31/49, 63.3 %) than in male patients (P = 0.016). GCTB with H3.3 G34L/V/R mutation occurred more often in younger patients compared with those with H3.3 G34W mutation (P = 0.009). The majority of GCTB with soft tissue extension developed in irregular bones but not in small bones (P = 0.061). The H3.3 G34L/V/R mutations rate (7/45) in the non-long bones was significantly higher than that in long bones. The recurrence rate of the GCTB in long bones and non-long bones was 23.3 % (45/193) including 43 cases with local recurrene and 2 cases with lung metastasis. No recurrence occurred in cases with G34V/L/R mutations. H3F3A was an effective diagnostic marker for GCTB of the non-long bones. The younger patients with GCTB of the non-long bones harboured H3.3 G34L/V/R mutations and may had a female preference and rarely recurrent.
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影响因子：
7.7
作者：
Lowe BR;Yadav RK;Henry RA;Schreiner P;Matsuda A;Fernandez AG;Finkelstein D;Campbell M;Kallappagoudar S;Jablonowski CM;Andrews AJ;Hiraoka Y;Partridge JF
通讯作者：
Partridge JF
影响因子：
5.6
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
通讯作者：
Rutkowski P
影响因子：
6.4
作者：
Lueke, Julian;von Baer, Alexandra;Barth, Thomas F. E.
通讯作者：
Barth, Thomas F. E.
影响因子：
3.4
作者：
Schaefer IM;Fletcher JA;Nielsen GP;Shih AR;Ferrone ML;Hornick JL;Qian X
通讯作者：
Qian X
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.