Wegert, J;
Vokuhl, C;
Collord, G;
Velasco-Herrera, MDC;
Farndon, SJ;
Guzzo, C;
Jorgensen, M;
... Behjati, S; + view all
(2018)
Recurrent intragenic rearrangements of EGFR and BRAF in soft tissue tumors of infants.
Nature Communications
, 9
, Article 2378. 10.1038/s41467-018-04650-6.
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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.
| Type: | Article |
|---|---|
| Title: | Recurrent intragenic rearrangements of EGFR and BRAF in soft tissue tumors of infants |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1038/s41467-018-04650-6 |
| Publisher version: | https://doi.org/10.1038/s41467-018-04650-6 |
| Language: | English |
| Additional information: | This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. |
| Keywords: | Science & Technology, Multidisciplinary Sciences, Science & Technology - Other Topics, MESOBLASTIC NEPHROMA, RENAL TUMORS, GENE FUSIONS, CONGENITAL FIBROSARCOMA, PILOCYTIC ASTROCYTOMA, HUMAN CANCER, KINASE, SIGNATURES, LANDSCAPE, PATTERNS |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Biology and Cancer Dept UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Population, Policy and Practice Dept |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10052833 |
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