Overview

NCI Definition: A usually aggressive malignant bone-forming mesenchymal neoplasm, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain with or without a palpable mass is the most frequent clinical symptom. It may spread to other anatomic sites, particularly the lungs. [1]

Osteosarcomas most frequently harbor alterations in TP53, CDKN2A, CDKN2B, VEGFA, and CCND3 [2].

Most Commonly Altered Genes in Osteosarcoma

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 osteosarcoma [2].

Top Alterations in Osteosarcoma

Significant Genes in Osteosarcoma

ARID1A +

ATM +

ATR +

ATRX +

BARD1 +

BRCA1 +

BRCA2 +

BRIP1 +

CCNE1 +

CDK12 +

CHEK1 +

CHEK2 +

FANCA +

FANCB +

FANCC +

FANCD2 +

FANCE +

FANCF +

FANCG +

FANCI +

FANCL +

FANCM +

FBXW7 +

MCPH1 +

MRE11A +

MYC +

MYCN +

NBN +

PALB2 +

PTEN +

RAD50 +

RAD51 +

RAD51B +

RAD51C +

RAD51D +

SLX4 +

Disease Details

Synonyms
Osteogenic Sarcoma, OSTEOSARCOMA, MALIGNANT
Parent(s)
Sarcoma
Children
Bone Osteosarcoma, Localized Osteosarcoma, Childhood Osteosarcoma, and Extraskeletal Osteosarcoma
OncoTree Name
Osteosarcoma
OncoTree Code
OS

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.