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000136830 1001_ $$aWegert, Jenny$$b0
000136830 245__ $$aRecurrent intragenic rearrangements of EGFR and BRAF in soft tissue tumors of infants.
000136830 260__ $$aLondon$$bNature Publishing Group$$c2018
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000136830 520__ $$aSoft tissue tumors of infancy encompass an overlapping spectrum of diseases that pose unique diagnostic and clinical challenges. We studied genomes and transcriptomes of cryptogenic congenital mesoblastic nephroma (CMN), and extended our findings to five anatomically or histologically related soft tissue tumors: infantile fibrosarcoma (IFS), nephroblastomatosis, Wilms tumor, malignant rhabdoid tumor, and clear cell sarcoma of the kidney. A key finding is recurrent mutation of EGFR in CMN by internal tandem duplication of the kinase domain, thus delineating CMN from other childhood renal tumors. Furthermore, we identify BRAF intragenic rearrangements in CMN and IFS. Collectively these findings reveal novel diagnostic markers and therapeutic strategies and highlight a prominent role of isolated intragenic rearrangements as drivers of infant tumors.
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000136830 7001_ $$aVokuhl, Christian$$b1
000136830 7001_ $$00000-0003-1924-4411$$aCollord, Grace$$b2
000136830 7001_ $$00000-0001-5956-0211$$aDel Castillo Velasco-Herrera, Martin$$b3
000136830 7001_ $$aFarndon, Sarah J$$b4
000136830 7001_ $$00000-0003-3742-5961$$aGuzzo, Charlotte$$b5
000136830 7001_ $$aJorgensen, Mette$$b6
000136830 7001_ $$aAnderson, John$$b7
000136830 7001_ $$aSlater, Olga$$b8
000136830 7001_ $$aDuncan, Catriona$$b9
000136830 7001_ $$aBausenwein, Sabrina$$b10
000136830 7001_ $$aStreitenberger, Heike$$b11
000136830 7001_ $$aZiegler, Barbara$$b12
000136830 7001_ $$aFurtwängler, Rhoikos$$b13
000136830 7001_ $$00000-0002-2248-323X$$aGraf, Norbert$$b14
000136830 7001_ $$aStratton, Michael R$$b15
000136830 7001_ $$aCampbell, Peter J$$b16
000136830 7001_ $$0P:(DE-He78)551bb92841f634070997aa168d818492$$aJones, David$$b17$$udkfz
000136830 7001_ $$00000-0001-8763-8864$$aKoelsche, Christian$$b18
000136830 7001_ $$0P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9$$aPfister, Stefan$$b19$$udkfz
000136830 7001_ $$aMifsud, William$$b20
000136830 7001_ $$aSebire, Neil$$b21
000136830 7001_ $$aSparber-Sauer, Monika$$b22
000136830 7001_ $$aKoscielniak, Ewa$$b23
000136830 7001_ $$aRosenwald, Andreas$$b24
000136830 7001_ $$00000-0002-7915-6045$$aGessler, Manfred$$b25
000136830 7001_ $$aBehjati, Sam$$b26
000136830 773__ $$0PERI:(DE-600)2553671-0$$a10.1038/s41467-018-04650-6$$gVol. 9, no. 1, p. 2378$$n1$$p2378$$tNature Communications$$v9$$x2041-1723$$y2018
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