Nature Communications (Jun 2018)
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,
- Sam Behjati
Affiliations
- Jenny Wegert
- Theodor-Boveri-Institute/Biocenter, Developmental Biochemistry, University of Wuerzburg
- Christian Vokuhl
- Kiel Pediatric Tumor Registry, Section of Pediatric Pathology, Department of Pathology, 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
- Theodor-Boveri-Institute/Biocenter, Developmental Biochemistry, University of Wuerzburg
- Heike Streitenberger
- Theodor-Boveri-Institute/Biocenter, Developmental Biochemistry, University of Wuerzburg
- Barbara Ziegler
- Theodor-Boveri-Institute/Biocenter, Developmental Biochemistry, University of Wuerzburg
- Rhoikos Furtwängler
- Department of Pediatric Oncology and Hematology, Saarland University Hospital
- Norbert Graf
- Department of Pediatric Oncology and Hematology, 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
- Clinical Cooperation Unit Neuropathology, 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
- Klinikum Stuttgart—Olgahospital, Stuttgart Cancer Center, Zentrum für Kinder-, Jugend- und Frauenmedizin, Pediatrics 5 (Oncology, Hematology, Immunology)
- Ewa Koscielniak
- Klinikum Stuttgart—Olgahospital, Stuttgart Cancer Center, Zentrum für Kinder-, Jugend- und Frauenmedizin, Pediatrics 5 (Oncology, Hematology, Immunology)
- Andreas Rosenwald
- Institute of Pathology, University of Wuerzburg
- Manfred Gessler
- Theodor-Boveri-Institute/Biocenter, Developmental Biochemistry, University of Wuerzburg
- Sam Behjati
- Wellcome Trust Sanger Institute
- DOI
- https://doi.org/10.1038/s41467-018-04650-6
- Journal volume & issue
-
Vol. 9,
no. 1
pp. 1 – 6
Abstract
Soft tissue tumors in infants encompass an overlapping spectrum of diseases posing unique diagnostic and clinical challenges. Here, the authors investigate the genetic basis of cryptogenic congenital mesoblastic nephroma and infantile fibrosarcoma lacking the canonical NTRK3-ETV6 fusion gene, and identify therapeutically tractable intragenic rearrangements in EGFR and BRAF.
