Recurrent intragenic rearrangements of EGFR and BRAF in soft tissue tumors of infants.
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Authors
Wegert, Jenny
Vokuhl, Christian
Farndon, Sarah J
Jorgensen, Mette
Anderson, John
Slater, Olga
Duncan, Catriona
Bausenwein, Sabrina
Streitenberger, Heike
Ziegler, Barbara
Furtwängler, Rhoikos
Stratton, Michael R
Campbell, Peter J
Jones, David Tw
Pfister, Stefan M
Mifsud, William
Sebire, Neil
Sparber-Sauer, Monika
Koscielniak, Ewa
Rosenwald, Andreas
Behjati, Sam
Publication Date
2018-06-18Journal Title
Nat Commun
ISSN
2041-1723
Publisher
Springer Science and Business Media LLC
Volume
9
Issue
1
Pages
2378
Language
eng
Type
Article
Physical Medium
Electronic
Metadata
Show full item recordCitation
Wegert, J., Vokuhl, C., Collord, G., Del Castillo Velasco-Herrera, M., Farndon, S. J., Guzzo, C., Jorgensen, M., et al. (2018). Recurrent intragenic rearrangements of EGFR and BRAF in soft tissue tumors of infants.. Nat Commun, 9 (1), 2378. https://doi.org/10.1038/s41467-018-04650-6
Abstract
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.
Keywords
Humans, Nephroma, Mesoblastic, Fibrosarcoma, Kidney Neoplasms, Proto-Oncogene Proteins B-raf, Gene Rearrangement, Genes, erbB-1, Infant, Infant, Newborn, Female, Male
Identifiers
External DOI: https://doi.org/10.1038/s41467-018-04650-6
This record's URL: https://www.repository.cam.ac.uk/handle/1810/283032
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