Diseases /
Ewing Sarcoma
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Associated Genetic Biomarkers
Overview
NCI Definition: A small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It affects mostly males under age 20, and it can occur in soft tissue or bone. Pain and the presence of a mass are the most common clinical symptoms. [1]
Ewing sarcomas most frequently harbor alterations in EWSR1, FLI1, TP53, STAG2, and ERG [2].
EWSR1 Fusion, EWSR1-FLI1 Fusion, FLI1-EWSR1 Fusion, TP53 c.217-c.1178 Missense, and TP53 Mutation are the most common alterations in Ewing sarcoma [2].
Clinical Trials
Significant Genes in Ewing Sarcoma
Disease Details
References
1. National Cancer Institute. NCI Thesaurus Version 18.11d. https://ncit.nci.nih.gov/ncitbrowser/ [2018-08-28]. [2018-09-21].
2. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.
3. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.