Associated Genetic Biomarkers

Overview

NCI Definition: A usually aggressive malignant neoplasm of the soft tissue or bone. It arises from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the neoplasm. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma. [1]

Sarcomas most frequently harbor alterations in TP53, KIT, CDKN2A, RB1, and CDKN2B [2].

Most Commonly Altered Genes in Sarcoma

TP53 Mutation, KIT Mutation, TP53 Missense, TP53 c.217-c.1178 Missense, and KIT Exon 11 Mutation are the most common alterations in sarcoma [2].

Top Alterations in Sarcoma

Significant Genes in Sarcoma

ABL2 +

ACVR1B +

APC +

ASXL1 +

ATM +

ATR +

BLM +

BRCA1 +

BRCA2 +

CDK12 +

CDKN1A +

CDKN1B +

CDKN2A +

CHD4 +

CYLD +

DICER1 +

DNMT3A +

ERBB2 +

ERBB3 +

EWSR1 +

EZH2 +

FGFR1 +

FGFR2 +

FGFR3 +

FGFR4 +

FLT3 +

FUS +

GATA3 +

HGF +

IDH1 +

KDM6A +

KDR +

KEAP1 +

KIT +

KMT2D +

KRAS +

MAGI2 +

MAP3K1 +

MED12 +

MET +

MSH2 +

MSH6 +

MYC +

NF1 +

NF2 +

NOTCH1 +

NOTCH2 +

NRAS +

NSD1 +

PIK3C2B +

PIK3CA +

PIK3CB +

PIK3R1 +

PTCH1 +

PTPN11 +

RB1 +

RICTOR +

RUNX1 +

SETD2 +

SMARCA4 +

SOX9 +

STAG2 +

TAF1 +

TAF15 +

TBX3 +

TET2 +

TP53 +

XPO1 +

Disease Details

Synonyms
Sarcoma of Soft Tissue and Bone, SARCOMA, MALIGNANT, Unknown primary sarcoma, Sarcoma of the Soft Tissue and Bone, Mesenchymal Tumor, Malignant, Unknown primary, sarcoma
Parent(s)
Malignant Solid Tumor
Children
Liposarcoma, Spindle Cell Sarcoma, Leiomyosarcoma, Sarcoma, NOS, Head and Neck Sarcoma, Osteosarcoma, Radiation-Related Sarcoma, Angiosarcoma, Small Cell Sarcoma, Soft Tissue Sarcoma, Sarcomatosis, Malignant Peripheral Nerve Sheath Tumor, Bone Sarcoma, Fibrosarcoma, Ewing Sarcoma, and Mast Cell 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 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.