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 CDKN2A [2].

Most Commonly Altered Genes in Ewing Sarcoma

TP53 Mutation, TP53 c.217-c.1178 Missense, TP53 Missense, STAG2 Mutation, and STAG2 Frameshift are the most common alterations in Ewing sarcoma [2].

Top Alterations in Ewing Sarcoma

Significant Genes in Ewing Sarcoma

ABL1 +

AFF1 +

AKT1 +

AKT2 +

AKT3 +

ATM +

ATR +

AXL +

BARD1 +

BCR +

BRCA1 +

BRCA2 +

BRIP1 +

CHEK1 +

CHEK2 +

CRKL +

DEK +

EGFR +

ELL +

ERBB2 +

EWSR1 +

FANCA +

FANCB +

FANCC +

FANCD2 +

FANCE +

FANCF +

FANCG +

FANCI +

FANCL +

FANCM +

FLI1 +

FLT3 +

IRS2 +

KIT +

KMT2A +

MCPH1 +

MECOM +

MET +

MLH1 +

MLH3 +

MLLT1 +

MLLT10 +

MLLT3 +

MLLT4 +

MRE11A +

MSH2 +

MSH3 +

MSH6 +

MTOR +

MYCN +

NBN +

NUP214 +

PALB2 +

PDGFRA +

PIK3CA +

PIK3CG +

PIK3R1 +

PIK3R2 +

PMS1 +

PMS2 +

PTEN +

RAD50 +

RAD51 +

RAD51B +

RAD51C +

RAD51D +

RET +

RICTOR +

RNF43 +

RPN1 +

RPTOR +

SLX4 +

TP53 +

TSC1 +

TSC2 +

Disease Details

Synonyms
ES, PEDIATRIC Soft tissue Ewing sarcoma, Ewing's Tumor, Ewing sarcoma, Ewing's Sarcoma
Parent(s)
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
Children
Ewing Sarcoma of Bone, Extraskeletal Ewing Sarcoma, and Localized Ewing Sarcoma
OncoTree Name
Ewing Sarcoma
OncoTree Code
ES

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.