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 CDKN2A [2].

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

TP53 Mutation, TP53 c.217-c.1178 Missense, TP53 Missense, STAG2 Mutation, and STAG2 Frameshift 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 sarcoma family of tumors, Tumors of the Ewing's Family, Ewing Family of Tumors, Ewing's Family of Tumours, Ewing sarcoma/Peripheral PNET, Ewing's Family of Tumors, EFTs, Ewing's Sarcoma/Peripheral Primitive Neuroectodermal Tumor, Tumors of Ewing's Family
Parent(s)
Embryonal Neoplasm
Children
Peripheral Primitive Neuroectodermal Tumor, Localized Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor, Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor of Bone, Extraskeletal Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor, and Ewing Sarcoma

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 6. 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.