Recurrent intragenic rearrangements of EGFR and BRAF in soft tissue tumors of infants

Jenny Wegert, Christian Vokuhl, Grace Collord, Martin Del Castillo Velasco-Herrera, Sarah J. Farndon, Charlotte Guzzo, Mette Jorgensen, John Anderson, Olga Slater, Catriona Duncan, Sabrina Bausenwein, Heike Streitenberger, Barbara Ziegler, Rhoikos Furtwängler, Norbert Graf, Michael R. Stratton, Peter J. Campbell, David TW Jones, Christian Koelsche, Stefan M. Pfister, William Mifsud, Neil Sebire, Monika Sparber-Sauer, Ewa Koscielniak, Andreas Rosenwald, Manfred Gessler () and Sam Behjati ()
Additional contact information
Jenny Wegert: University of Wuerzburg
Christian Vokuhl: Christian Albrechts University
Grace Collord: Wellcome Trust Sanger Institute
Martin Del Castillo Velasco-Herrera: Wellcome Trust Sanger Institute
Sarah J. Farndon: Wellcome Trust Sanger Institute
Charlotte Guzzo: Wellcome Trust Sanger Institute
Mette Jorgensen: Great Ormond Street Hospital for Children NHS Foundation Trust
John Anderson: UCL Great Ormond Street Institute of Child Health
Olga Slater: Great Ormond Street Hospital for Children NHS Foundation Trust
Catriona Duncan: Great Ormond Street Hospital for Children NHS Foundation Trust
Sabrina Bausenwein: University of Wuerzburg
Heike Streitenberger: University of Wuerzburg
Barbara Ziegler: University of Wuerzburg
Rhoikos Furtwängler: Saarland University Hospital
Norbert Graf: Saarland University Hospital
Michael R. Stratton: Wellcome Trust Sanger Institute
Peter J. Campbell: Wellcome Trust Sanger Institute
David TW Jones: Hopp Children’s Cancer Center at the NCT Heidelberg (KiTZ)
Christian Koelsche: German Cancer Research Center (DKFZ)
Stefan M. Pfister: Hopp Children’s Cancer Center at the NCT Heidelberg (KiTZ)
William Mifsud: Great Ormond Street Hospital for Children NHS Foundation Trust
Neil Sebire: UCL Great Ormond Street Institute of Child Health
Monika Sparber-Sauer: Pediatrics 5 (Oncology, Hematology, Immunology)
Ewa Koscielniak: Pediatrics 5 (Oncology, Hematology, Immunology)
Andreas Rosenwald: University of Wuerzburg
Manfred Gessler: University of Wuerzburg
Sam Behjati: Wellcome Trust Sanger Institute

Nature Communications, 2018, vol. 9, issue 1, 1-6

Abstract: 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.

Date: 2018
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DOI: 10.1038/s41467-018-04650-6

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