Recurrent rearrangements of FOS and FOSB define osteoblastoma.
Recurrent rearrangements of FOS and FOSB define osteoblastoma.
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DOI：
10.1038/s41467-018-04530-z
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发表时间：
2018-06-01
影响因子：
16.6
通讯作者：
Behjati S
中科院分区：
文献类型：
--
作者：
Fittall MW;Mifsud W;Pillay N;Ye H;Strobl AC;Verfaillie A;Demeulemeester J;Zhang L;Berisha F;Tarabichi M;Young MD;Miranda E;Tarpey PS;Tirabosco R;Amary F;Grigoriadis AE;Stratton MR;Van Loo P;Antonescu CR;Campbell PJ;Flanagan AM;Behjati S
转录因子FOS长期以来一直与骨肿瘤的发病机制有关，此前发现病毒同源物v-fos在实验室小鼠中引起骨肉瘤。然而，在人类骨形成肿瘤中尚未发现FOS突变。在这里，我们报告了在最常见的骨良性肿瘤、成骨细胞瘤和类骨骨瘤中FOS及其旁系物FOSB的复发重排。结合全基因组DNA和RNA序列，我们在5个肿瘤中发现FOS重排，在一个肿瘤中发现FOSB重排。将我们的发现扩展到55例队列中，使用FISH和免疫组织化学，提供了在成骨细胞瘤和类骨骨瘤中普遍存在FOS或FOSB突变的证据。总之，我们的发现揭示了一种由FOS和FOSB突变定义的人类骨肿瘤。FOS与骨肿瘤发病机制有关，病毒同源物v-fos可引起小鼠骨肉瘤。在这里，作者报告了FOS及其旁系FOSB在成骨细胞瘤和类骨骨瘤中的重排，揭示了由FOS和FOSB突变定义的人骨肿瘤。
The transcription factor FOS has long been implicated in the pathogenesis of bone tumours, following the discovery that the viral homologue, v-fos, caused osteosarcoma in laboratory mice. However, mutations of FOS have not been found in human bone-forming tumours. Here, we report recurrent rearrangement of FOS and its paralogue, FOSB, in the most common benign tumours of bone, osteoblastoma and osteoid osteoma. Combining whole-genome DNA and RNA sequences, we find rearrangement of FOS in five tumours and of FOSB in one tumour. Extending our findings into a cohort of 55 cases, using FISH and immunohistochemistry, provide evidence of ubiquitous mutation of FOS or FOSB in osteoblastoma and osteoid osteoma. Overall, our findings reveal a human bone tumour defined by mutations of FOS and FOSB. FOS has been linked to bone tumour pathogenesis, and viral homologue v-fos causes osteosarcoma in mice. Here, the authors report rearrangement of FOS and its paralogue FOSB in osteoblastoma and osteoid osteoma, revealing human bone tumours that are defined by mutations of FOS and FOSB.
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DOI：
10.1093/bioinformatics/btu638
发表时间：
2015-01-15
期刊：
Bioinformatics (Oxford, England)
影响因子：
--
作者：
Anders S;Pyl PT;Huber W
通讯作者：
Huber W
影响因子：
64.8
作者：
Nik-Zainal S;Davies H;Staaf J;Ramakrishna M;Glodzik D;Zou X;Martincorena I;Alexandrov LB;Martin S;Wedge DC;Van Loo P;Ju YS;Smid M;Brinkman AB;Morganella S;Aure MR;Lingjærde OC;Langerød A;Ringnér M;Ahn SM;Boyault S;Brock JE;Broeks A;Butler A;Desmedt C;Dirix L;Dronov S;Fatima A;Foekens JA;Gerstung M;Hooijer GK;Jang SJ;Jones DR;Kim HY;King TA;Krishnamurthy S;Lee HJ;Lee JY;Li Y;McLaren S;Menzies A;Mustonen V;O'Meara S;Pauporté I;Pivot X;Purdie CA;Raine K;Ramakrishnan K;Rodríguez-González FG;Romieu G;Sieuwerts AM;Simpson PT;Shepherd R;Stebbings L;Stefansson OA;Teague J;Tommasi S;Treilleux I;Van den Eynden GG;Vermeulen P;Vincent-Salomon A;Yates L;Caldas C;van't Veer L;Tutt A;Knappskog S;Tan BK;Jonkers J;Borg Å;Ueno NT;Sotiriou C;Viari A;Futreal PA;Campbell PJ;Span PN;Van Laere S;Lakhani SR;Eyfjord JE;Thompson AM;Birney E;Stunnenberg HG;van de Vijver MJ;Martens JW;Børresen-Dale AL;Richardson AL;Kong G;Thomas G;Stratton MR
通讯作者：
Stratton MR
FOSB 免疫组织化学在假性肌源性血管内皮瘤及其组织学模拟中的诊断效用。
影响因子：
2.6
作者：
Sugita S;Hirano H;Kikuchi N;Kubo T;Asanuma H;Aoyama T;Emori M;Hasegawa T
通讯作者：
Hasegawa T
影响因子：
16.6
作者：
Behjati S;Tarpey PS;Haase K;Ye H;Young MD;Alexandrov LB;Farndon SJ;Collord G;Wedge DC;Martincorena I;Cooke SL;Davies H;Mifsud W;Lidgren M;Martin S;Latimer C;Maddison M;Butler AP;Teague JW;Pillay N;Shlien A;McDermott U;Futreal PA;Baumhoer D;Zaikova O;Bjerkehagen B;Myklebost O;Amary MF;Tirabosco R;Van Loo P;Stratton MR;Flanagan AM;Campbell PJ
通讯作者：
Campbell PJ
影响因子：
3.7
作者：
Antonescu, Cristina R.;Chen, Hsiao-Wei;Fletcher, Christopher D.
通讯作者：
Fletcher, Christopher D.