TY  - JOUR
AU  - Wegert, Jenny
AU  - Vokuhl, Christian
AU  - Collord, Grace
AU  - Del Castillo Velasco-Herrera, Martin
AU  - Farndon, Sarah J
AU  - Guzzo, Charlotte
AU  - Jorgensen, Mette
AU  - Anderson, John
AU  - Slater, Olga
AU  - Duncan, Catriona
AU  - Bausenwein, Sabrina
AU  - Streitenberger, Heike
AU  - Ziegler, Barbara
AU  - Furtwängler, Rhoikos
AU  - Graf, Norbert
AU  - Stratton, Michael R
AU  - Campbell, Peter J
AU  - Jones, David
AU  - Koelsche, Christian
AU  - Pfister, Stefan
AU  - Mifsud, William
AU  - Sebire, Neil
AU  - Sparber-Sauer, Monika
AU  - Koscielniak, Ewa
AU  - Rosenwald, Andreas
AU  - Gessler, Manfred
AU  - Behjati, Sam
TI  - Recurrent intragenic rearrangements of EGFR and BRAF in soft tissue tumors of infants.
JO  - Nature Communications
VL  - 9
IS  - 1
SN  - 2041-1723
CY  - London
PB  - Nature Publishing Group
M1  - DKFZ-2018-01268
SP  - 2378
PY  - 2018
AB  - 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.
LB  - PUB:(DE-HGF)16
C6  - pmid:29915264
C2  - pmc:PMC6006309
DO  - DOI:10.1038/s41467-018-04650-6
UR  - https://inrepo02.dkfz.de/record/136830
ER  -