ArticlePloS one2014
Novel secondary somatic mutations in Ewing's sarcoma and desmoplastic small round cell tumors.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Intra-Abdominal Desmoplastic Small Round Cell Tumor: Current Treatment Options and Perspectives.Frontiers in oncology · 2021Pooled it
- Review
- IGF-1R inhibitors in cancer: A review of available evidence and future outlook.Critical reviews in oncology/hematology · 2025Review
- Targeted Inhibition of the PI3K/Akt/mTOR Signaling Axis: Potential for Sarcoma Therapy.Mini reviews in medicinal chemistry · 2024Review
- Protein tyrosine phosphatases in skeletal development and diseases.Bone research · 2022Review
- Comprehensive Molecular Profiling of Desmoplastic Small Round Cell Tumor.Molecular cancer research : MCR · 2021Article
- Previously unreported somatic variants in two patients with pleuropulmonary blastoma with metastatic brain recurrence.Pediatric blood & cancer · 2021Article
- Desmoplastic Small Round Cell Tumor: A Review of Main Molecular Abnormalities and Emerging Therapy.Cancers · 2021Review
- Precision medicine in Ewing sarcoma: a translational point of view.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2020Review
- Recurrent secondary genomic alterations in desmoplastic small round cell tumors.BMC medical genetics · 2020Article
- Mini-Review on Targeted Treatment of Desmoplastic Small Round Cell Tumor.Frontiers in oncology · 2020Review
- The Role of Tyrosine Kinases as a Critical Prognostic Parameter and Its Targeted Therapies in Ewing Sarcoma.Frontiers in cell and developmental biology · 2020Review
- Management of recurrent Ewing sarcoma: challenges and approaches.OncoTargets and therapy · 2019Review
- The genomics of desmoplastic small round cell tumor reveals the deregulation of genes related to DNA damage response, epithelial-mesenchymal transition, and immune response.Cancer communications (London, England) · 2018Article
- Preclinical Evaluation of Vemurafenib as Therapy for BRAFInternational journal of molecular sciences · 2018Article
- The Role of Next-Generation Sequencing in Sarcomas: Evolution From Light Microscope to Molecular Microscope.Current oncology reports · 2017Review
- Arginine auxotrophic gene signature in paediatric sarcomas and brain tumours provides a viable target for arginine depletion therapies.Oncotarget · 2017Article
- New transcriptional-based insights into the pathogenesis of desmoplastic small round cell tumors (DSRCTs).Oncotarget · 2017Article
- Review
- Sequencing Overview of Ewing Sarcoma: A Journey across Genomic, Epigenomic and Transcriptomic Landscapes.International journal of molecular sciences · 2015Review
Corrections and comments
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Authors and funding
9 authors.
Funding
Abstract
backgroundEwing's sarcoma (ES) and desmoplastic small round cell tumors (DSRCT) are small round blue cell tumors driven by an N-terminal containing EWS translocation. Very few somatic mutations have been reported in ES, and none have been identified in DSRCT. The aim of this study is to explore potential actionable mutations in ES and DSRCT. METHODOLOGY: Twenty eight patients with ES or DSRCT had tumor tissue available that could be analyzed by one of the following methods: 1) Next-generation exome sequencing platform; 2) Multiplex PCR/Mass Spectroscopy; 3) Polymerase chain reaction (PCR)-based single- gene mutation screening; 4) Sanger sequencing; 5) Morphoproteomics. PRINCIPAL
findingsNovel somatic mutations were identified in four out of 18 patients with advanced ES and two of 10 patients with advanced DSRCT (six out of 28 (21.4%));KRAS (n = 1), PTPRD (n = 1), GRB10 (n = 2), MET (n = 2) and PIK3CA (n = 1). One patient with both PTPRD and GRB10 mutations and one with a GRB10 mutation achieved a complete remission (CR) on an Insulin like growth factor 1 receptor (IGF1R) inhibitor based treatment. One patient, who achieved a partial remission (PR) with IGF1R inhibitor treatment, but later developed resistance, demonstrated a KRAS mutation in the post-treatment resistant tumor, but not in the pre-treatment tumor suggesting that the RAF/RAS/MEK pathway was activated with progression.
conclusionsWe have reported several different mutations in advanced ES and DSRCT that have direct implications for molecularly-directed targeted therapy. Our technology agnostic approach provides an initial mutational roadmap used in the path towards individualized combination therapy.
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