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, RB1, MDM2, CDK4, and ATRX [2].

Most Commonly Altered Genes in Sarcoma

TP53 Mutation, TP53 c.217-c.1178 Missense, TP53 c.142-c.212 Missense, TP53 c.1-c.137 Missense, and TP53 Missense 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 +

EZH2 +

FGFR2 +

FLT3 +

GATA3 +

HGF +

IDH1 +

KDM6A +

KDR +

KEAP1 +

KIT +

KMT2D +

KRAS +

MAGI2 +

MAP3K1 +

MED12 +

MET +

MGMT +

MLH1 +

MSH2 +

MSH6 +

MYC +

NF1 +

NF2 +

NOTCH1 +

NOTCH2 +

NRAS +

NSD1 +

PIK3C2B +

PIK3CA +

PIK3CB +

PIK3R1 +

PMS2 +

PTCH1 +

PTPN11 +

RB1 +

RICTOR +

RUNX1 +

SETD2 +

SMARCA4 +

SOX9 +

STAG2 +

TAF1 +

TBX3 +

TET2 +

TP53 +

XPO1 +

Disease Details

Synonyms
Mesenchymal Tumor, Malignant, Sarcoma of Soft Tissue and Bone, Sarcoma of the Soft Tissue and Bone, SARCOMA, MALIGNANT
Parent(s)
Cell Type Cancer
Children
Mast Cell Sarcoma, Fibrosarcoma, Angiosarcoma, Radiation-Related Sarcoma, Leiomyosarcoma, Liposarcoma, Sarcomatosis, Small Cell Sarcoma, Ewing Sarcoma, Spindle Cell Sarcoma, Osteosarcoma, Sarcoma, NOS, Malignant Peripheral Nerve Sheath Tumor, Bone Sarcoma, and Soft Tissue 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 4. 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.