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| DOI | 10.1038/s41467-019-12727-z |
| Recurrent intragenic rearrangements of EGFR and BRAF in soft tissue tumors of infants | |
| Wegert, Jenny1; Vokuhl, Christian2; Collord, Grace3,4; Velasco-Herrera, Martin Del Castillo3; Farndon, Sarah J.3,5; Guzzo, Charlotte3; Jorgensen, Mette6; Anderson, John5,6; Slater, Olga6; Duncan, Catriona6; Bausenwein, Sabrina1; Streitenberger, Heike1; Ziegler, Barbara1; Furtwaengler, Rhoikos7; Graf, Norbert7; Stratton, Michael R.3; Campbell, Peter J.3; Jones, David T. W.8,9,10; Koelsche, Christian11,12,13; Pfister, Stefan M.8,9,10,14; Mifsud, William6; Sebire, Neil5,6; Sparber-Sauer, Monika15; Koscielniak, Ewa15,16; Rosenwald, Andreas17,18; Gessler, Manfred1,18; Behjati, Sam3,4 | |
| 2019-10-18 | |
| 发表期刊 | NATURE COMMUNICATIONS
 |
| ISSN | 2041-1723 |
| 出版年 | 2018 |
| 卷号 | 9 |
| 文章类型 | Article |
| 语种 | 英语 |
| 国家 | Germany; England |
| 英文摘要 | Soft tissue tumors of infancy encompass an overlapping spectrum of diseases that pose unique diagnostic and clinical challenges. We studied genomes and transcriptomes of cryptogenic congenital mesoblastic nephroma (CMN), and extended our findings to five anatomically or histologically related soft tissue tumors: infantile fibrosarcoma (IFS), nephroblastomatosis, Wilms tumor, malignant rhabdoid tumor, and clear cell sarcoma of the kidney. A key finding is recurrent mutation of EGFR in CMN by internal tandem duplication of the kinase domain, thus delineating CMN from other childhood renal tumors. Furthermore, we identify BRAF intragenic rearrangements in CMN and IFS. Collectively these findings reveal novel diagnostic markers and therapeutic strategies and highlight a prominent role of isolated intragenic rearrangements as drivers of infant tumors. |
| 领域 | 资源环境 |
| 收录类别 | SCI-E |
| WOS记录号 | WOS:000435453200006 |
| WOS关键词 | MESOBLASTIC NEPHROMA ; RENAL TUMORS ; GENE FUSIONS ; CANCER ; KINASE ; FIBROSARCOMA ; SIGNATURES ; LANDSCAPE ; PATTERNS ; MUTATION |
| WOS类目 | Multidisciplinary Sciences |
| WOS研究方向 | Science & Technology - Other Topics |
| URL | 查看原文 |
| 引用统计 | |
| 文献类型 | 期刊论文 |
| 条目标识符 | http://119.78.100.173/C666/handle/2XK7JSWQ/204605 |
| 专题 | 资源环境科学 |
| 作者单位 | 1.Univ Wurzburg, Theodor Boveri Inst, Dev Biochem, Bioctr, D-97074 Wurzburg, Germany; 2.Univ Kiel, Dept Pathol, Sect Pediat Pathol, Kiel Pediat Tumor Registry, D-24105 Kiel, Germany; 3.Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England; 4.Univ Cambridge, Dept Paediat, Cambridge CB2 0QQ, England; 5.UCL Great Ormond St Inst Child Hlth, London WC1N 1EH, England; 6.Great Ormond St Hosp Children NHS Fdn Trust, London WC1N 3JH, England; 7.Saarland Univ Hosp, Dept Pediat Oncol & Hematol, D-66421 Homburg, Germany; 8.NCT Heidelberg KiTZ, Hopp Childrens Canc Ctr, D-69120 Heidelberg, Germany; 9.German Canc Res Ctr, Dept Pediat Neurooncol, D-69120 Heidelberg, Germany; 10.German Canc Consortium DKTK, D-69120 Heidelberg, Germany; 11.German Canc Res Ctr, Clin Cooperat Unit Neuropathol, D-69120 Heidelberg, Germany; 12.Heidelberg Univ Hosp, Inst Pathol, Dept Neuropathol, D-69120 Heidelberg, Germany; 13.Heidelberg Univ Hosp, Inst Pathol, Dept Gen Pathol, D-69120 Heidelberg, Germany; 14.Heidelberg Univ Hosp, Dept Pediat Hematol & Oncol, D-69120 Heidelberg, Germany; 15.Klinikum Stuttgart Olgahosp, Stuttgart Canc Ctr, Zentrum Kinder Jugend & Frauenmed, Pediat Oncol Hematol Immunol 5, D-70174 Stuttgart, Germany; 16.Childrens Hosp, Dept Pediat Hematol & Oncol, D-72076 Tubingen, Germany; 17.Univ Wurzburg, Inst Pathol, D-97080 Wurzburg, Germany; 18.Univ Wurzburg, Comprehens Canc Ctr Mainfranken, D-97078 Wurzburg, Germany |
| 推荐引用方式 GB/T 7714 | Wegert, Jenny,Vokuhl, Christian,Collord, Grace,et al. Recurrent intragenic rearrangements of EGFR and BRAF in soft tissue tumors of infants[J]. NATURE COMMUNICATIONS,2019,9. |
| APA | Wegert, Jenny.,Vokuhl, Christian.,Collord, Grace.,Velasco-Herrera, Martin Del Castillo.,Farndon, Sarah J..,...&Behjati, Sam.(2019).Recurrent intragenic rearrangements of EGFR and BRAF in soft tissue tumors of infants.NATURE COMMUNICATIONS,9. |
| MLA | Wegert, Jenny,et al."Recurrent intragenic rearrangements of EGFR and BRAF in soft tissue tumors of infants".NATURE COMMUNICATIONS 9(2019). |
| 条目包含的文件 | 条目无相关文件。 | |||||
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