Overview

NCI Definition: A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. These tumors may occur in the soft tissues or the bones. Pain and the presence of a mass are the most common clinical symptoms. [1]

Ewing sarcoma/peripheral primitive neuroectodermal tumors most frequently harbor alterations in EWSR1, FLI1, TP53, STAG2, and ERG [2].

Most Commonly Altered Genes in Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor

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/peripheral primitive neuroectodermal tumor [2].

Top Alterations in Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor

Significant Genes in Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor

EWSR1 +

FUS +

Disease Details

Synonyms
Ewing's Sarcoma/Peripheral Primitive Neuroectodermal Tumor, EFTs, Ewing Family of Tumors, Ewing sarcoma/Peripheral PNET, Tumors of the Ewing's Family, Ewing's Family of Tumours, Tumors of Ewing's Family, Ewing sarcoma family of tumors, Ewing's Family of Tumors
Parent(s)
Malignant Solid Tumor
Children
Peripheral Primitive Neuroectodermal Tumor, Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor of Bone, Ewing Sarcoma, Extraskeletal Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor, and Localized Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor

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.