osteosarcoma
Findings
No curated finding names osteosarcoma yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0009807), read 2026-09-29. CC BY 4.0.
Genes
5 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- RECQL4HGNC:9949
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- SQSTM1HGNC:11280
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- BLMHGNC:1058
- Moderate · Genomics England PanelApp · Autosomal recessive · 2021
- WRNHGNC:12791
- Moderate · Genomics England PanelApp · Autosomal recessive · 2021
- TNFRSF11AHGNC:11908
- Limited · Genomics England PanelApp · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
5 names
Resolves to: osteosarcoma
- Also called
- osteogenic sarcomaosteoid sarcomaosteosarcoma (disease)osteosarcoma, malignantsarcoma of osteoid