Title |
The Genomic Landscape of Pediatric Ewing Sarcoma
|
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Published in |
Cancer Discovery, November 2014
|
DOI | 10.1158/2159-8290.cd-13-1037 |
Pubmed ID | |
Authors |
Brian D. Crompton, Chip Stewart, Amaro Taylor-Weiner, Gabriela Alexe, Kyle C. Kurek, Monica L. Calicchio, Adam Kiezun, Scott L. Carter, Sachet A. Shukla, Swapnil S. Mehta, Aaron R. Thorner, Carmen de Torres, Cinzia Lavarino, Mariona Suñol, Aaron McKenna, Andrey Sivachenko, Kristian Cibulskis, Michael S. Lawrence, Petar Stojanov, Mara Rosenberg, Lauren Ambrogio, Daniel Auclair, Sara Seepo, Brendan Blumenstiel, Matthew DeFelice, Ivan Imaz-Rosshandler, Angela Schwarz-Cruz y Celis, Miguel N. Rivera, Carlos Rodriguez-Galindo, Mark D. Fleming, Todd R. Golub, Gad Getz, Jaume Mora, Kimberly Stegmaier |
Abstract |
Pediatric Ewing sarcoma is characterized by the expression of chimeric fusions of EWS and ETS family transcription factors, representing a paradigm for studying cancers driven by transcription factor rearrangements. In this study, we describe the somatic landscape of pediatric Ewing sarcoma. These tumors are among the most genetically normal cancers characterized to date with only EWS/ETS rearrangements identified in the majority of tumors. STAG2 loss, however, is present in over 15% of Ewing sarcoma tumors; occurs by point mutation, rearrangement, and likely non-genetic mechanisms; and is associated with disease dissemination. Perhaps the most striking finding is the paucity of mutations in immediately targetable signal transduction pathways, highlighting the need for new therapeutic approaches to target EWS/ETS fusions in this disease. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 4 | 50% |
France | 1 | 13% |
Belgium | 1 | 13% |
Unknown | 2 | 25% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Scientists | 5 | 63% |
Members of the public | 3 | 38% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Spain | 1 | <1% |
Portugal | 1 | <1% |
Switzerland | 1 | <1% |
Slovenia | 1 | <1% |
Unknown | 340 | 99% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 74 | 22% |
Researcher | 61 | 18% |
Student > Bachelor | 35 | 10% |
Student > Master | 34 | 10% |
Student > Doctoral Student | 17 | 5% |
Other | 53 | 15% |
Unknown | 70 | 20% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 110 | 32% |
Agricultural and Biological Sciences | 68 | 20% |
Medicine and Dentistry | 58 | 17% |
Pharmacology, Toxicology and Pharmaceutical Science | 6 | 2% |
Computer Science | 5 | 1% |
Other | 20 | 6% |
Unknown | 77 | 22% |