Bone cancer
diseaseOn this page
Also known as bone neoplasmbone tumorbone tumourcancer of bonecancer of skeletal elementcancer of the bonemalignant bone neoplasmmalignant bone tumormalignant neoplasm of bonemalignant neoplasm of skeletal elementmalignant neoplasm of the bonemalignant osseous neoplasmmalignant osseous tumormalignant osseous tumourmalignant skeletal element neoplasmmalignant tumor of bonemalignant tumor of the bonemalignant tumour of bonemalignant tumour of the bone
Summary
Bone cancer (MONDO:0002129) is a cancer (an umbrella term covering 12 Mondo subtypes) with 1 GWAS associations across 3 studies and 115 clinical trials. Top therapeutic interventions include zoledronic acid anhydrous, ibandronic acid, and indocyanine green acid form. A subtype of musculoskeletal system cancer — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Classification: Cancer
- Umbrella term: 12 Mondo subtypes
- GWAS associations: 1
- Clinical trials: 115
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | bone cancer |
| Mondo ID | MONDO:0002129 |
| EFO | EFO:1000350 |
| MeSH | D001859 |
| DOID | DOID:184 |
| NCIT | C4016 |
| SNOMED CT | 428281000 |
| UMLS | C0279530 |
| MedGen | 79002 |
| GARD | 0023070 |
| Anatomy (UBERON) | UBERON:0001474 |
| Is cancer (heuristic) | yes |
Also known as: bone cancer · bone neoplasm · bone tumor · bone tumour · cancer of bone · cancer of skeletal element · cancer of the bone · malignant bone neoplasm · malignant bone tumor · malignant neoplasm of bone · malignant neoplasm of skeletal element · malignant neoplasm of the bone · malignant osseous neoplasm · malignant osseous tumor · malignant osseous tumour · malignant skeletal element neoplasm · malignant tumor of bone · malignant tumor of the bone · malignant tumour of bone · malignant tumour of the bone (+4 more)
Data availability: 1 GWAS association (3 studies).
Disease family
This is a subtype of musculoskeletal system cancer. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › musculoskeletal system disorder › musculoskeletal system cancer › bone cancer
Related subtypes (10): cartilage cancer, broad ligament malignant neoplasm, round ligament malignant neoplasm, laryngeal cartilage cancer, synovium cancer, uterine ligament cancer, tonsillar pillar cancer, gingival cancer, muscle cancer, ameloblastic carcinoma
Subtypes (12): bone chondrosarcoma, skull cancer, bone carcinoma, small cell osteogenic sarcoma, peripheral primitive neuroectodermal tumor of bone, sternum cancer, chest wall bone cancer, adult extraskeletal osteosarcoma, primary bone lymphoma, bone sarcoma, bone marrow cancer, cancer affecting bone of limb skeleton
Genetics & variants
GWAS landscape
1 GWAS associations across 3 studies. Top hits map to 3 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs3025157 | 1e-07 | PLXDC1, RDM1P5, RDM1P5 | ? |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90481492 | Verma A | 2024 | 588 | 449,759 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90651841 | Liu TY | 2025 | 203 | 236,808 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90435592 | Zhou W | 2018 | 128 | 408,537 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 0 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 1 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 0 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 0 |
| unknown | 1 |
Functional consequences
| Consequence | Count |
|---|---|
| non_coding_transcript_exon_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs3025157 | 17 | 39107577 | G>A,T | non_coding_transcript_exon_variant | PLXDC1, RDM1P5, RDM1P5 | 1e-07 | Tier 4: intronic/intergenic |
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
Drugs indicated for this disease
0 approved, 2 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.
| Drug | Development status |
|---|---|
| Sodium Chloride | Phase 3 (in late-stage trials) |
| Tranexamic Acid | Phase 3 (in late-stage trials) |
Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Carboplatin, Doxorubicin, Gemcitabine, Irinotecan, Lomustine, Paclitaxel.
Clinical trials & evidence
Clinical trials
Clinical trials: 115.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 74 |
| PHASE2 | 10 |
| PHASE1 | 10 |
| PHASE3 | 8 |
| PHASE1/PHASE2 | 6 |
| EARLY_PHASE1 | 5 |
| PHASE4 | 1 |
| PHASE2/PHASE3 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT02905916 | PHASE4 | UNKNOWN | The Efficacy and Safety of PEG-rhG-CSF in Neutropenia After Chemotherapy |
| NCT05115331 | PHASE3 | ACTIVE_NOT_RECRUITING | Palliative UNConventional Hypofractionation Trial for Metastatic Bone Disease |
| NCT00099177 | PHASE3 | TERMINATED | A Study to Assess the Efficacy of Intravenous/Oral Bondronat (Ibandronate) in Patients With Metastatic Bone Disease Experiencing Moderate to Severe Pain |
| NCT00099203 | PHASE3 | TERMINATED | A Study to Assess the Efficacy of Intravenous Bondronat (Ibandronate) in Patients With Malignant and Painful Bone Disease |
| NCT00127387 | PHASE2/PHASE3 | TERMINATED | Enbrel Versus Placebo With Radiation Therapy to Combat Fatigue and Cachexia |
| NCT02153593 | PHASE3 | TERMINATED | Postoperative Bleeding Prevention in Massive Bone Tumour Resection |
| NCT03002454 | PHASE3 | TERMINATED | Sodium Pertechnetate (99Tc) Injection Generator: 99mTc From Neutron-activation 99Mo v 99mTc From Fission 99Mo |
| NCT03389724 | PHASE3 | COMPLETED | Prevention of Chemotherapy Induced Cardiotoxicity in Children With Bone Tumors and Acute Myeloid Leukemia |
| NCT04410042 | PHASE3 | TERMINATED | Tranexamic Acid Use to Reduce Blood Transfusion in Pediatric Cancer Patients Undergoing Limb Salvage Procedure |
| NCT04842071 | PHASE3 | UNKNOWN | 18F-sodium Fluoride (NaF) PET to Replace Bone Scintigraphy: Safety and Efficacy Assessment |
| NCT02880319 | PHASE2 | ACTIVE_NOT_RECRUITING | Evaluating Stereotactic Body Radiation Therapy for Oligometastatic Disease of the Bone |
| NCT03678883 | PHASE2 | ACTIVE_NOT_RECRUITING | 9-ING-41 in Patients With Advanced Cancers |
| NCT04974008 | PHASE2 | ACTIVE_NOT_RECRUITING | Osteosarcoma Maintenance Therapy With OST31-164 |
| NCT07560410 | PHASE1/PHASE2 | NOT_YET_RECRUITING | Treatment of Truncated ALK-positive Bone Cancer Using Crizotinib (Xalkori) or Alectinib (Alecensa) |
| NCT00478270 | PHASE2 | WITHDRAWN | A Study of Loading Doses of Intravenous Bondronat (Ibandronate) in Patients With Breast Cancer and Metastatic Bone Disease. |
| NCT01085565 | PHASE2 | COMPLETED | Focused Ultrasound Surgery in the Treatment of Pain Resulting From Metastatic Bone Tumors With the ExAblate 2100 Conformal Bone System |
| NCT01117246 | PHASE1/PHASE2 | COMPLETED | Pilot Study for Palliation of Pain in Bone Metastases by MR-HIFU |
| NCT01313884 | PHASE2 | TERMINATED | Cyclophosphamide, Doxorubicin, Vincristine w/ Irinotecan and Temozolomide in Ewings Sarcoma |
| NCT01336803 | PHASE2 | COMPLETED | Differentiation of Bone Sarcomas and Osteomyelitis With Ferumoxytol-Enhanced MRI |
| NCT01553539 | PHASE2 | COMPLETED | Therapeutic Angiotensin-(1-7) in Treating Patients With Metastatic Sarcoma That Cannot Be Removed By Surgery |
| NCT01693770 | PHASE1/PHASE2 | UNKNOWN | Primary Pain Palliation in Bone Metastases Treated With Magnetic Resonance-guided Focused Ultrasound |
| NCT02862288 | PHASE1/PHASE2 | COMPLETED | Preliminary Study of Microwave Tumoral Ablation Performances for the Treatment of Pulmonary, Renal and Bone Neoplasia. |
| NCT03468075 | PHASE2 | TERMINATED | Gemcitabine Plus Ascorbate for Sarcoma in Adults |
| NCT04310410 | PHASE1/PHASE2 | COMPLETED | Feasibility of Combined Focused Ultrasound and Radiotherapy Treatment in Patients With Painful Bone Metastasis |
| NCT05241132 | PHASE2 | UNKNOWN | Tislelizumab Combined With Chemotherapy in the Treatment of Bone Metastases of Unknown Primary |
| NCT06562673 | PHASE1/PHASE2 | COMPLETED | Intra-arterial Cisplatin Plus Rh-endostatin Combined With Systematic Chemotherapy in Osteosarcoma |
| NCT07197645 | PHASE1 | RECRUITING | Samarium Optimized for Long-lasting Analgesia in Cancerous End-stage Bone Pain |
| NCT00019630 | PHASE1 | COMPLETED | Liposomal Doxorubicin in Treating Children With Refractory Solid Tumors |
| NCT00020267 | PHASE1 | COMPLETED | Vaccine Therapy in Treating Patients With Metastatic Cancer |
| NCT00960063 | PHASE1 | TERMINATED | A Study of Robatumumab (SCH 717454, MK-7454) in Combination With Different Treatment Regimens in Pediatric Participants With Advanced Solid Tumors (P05883, MK-7454-006) |
| NCT02398058 | PHASE1 | COMPLETED | Trabectedin Plus Olaparib in Metastatic or Advanced Sarcomas (TOMAS) |
| NCT03420963 | PHASE1 | TERMINATED | Donor Natural Killer Cells, Cyclophosphamide, and Etoposide in Treating Children and Young Adults With Relapsed or Refractory Solid Tumors |
| NCT03525392 | PHASE1 | TERMINATED | Study to Evaluate the Safety and Activity (Including Distribution) of 177Lu-3BP-227 in Subjects With Solid Tumours Expressing Neurotensin Receptor Type 1. |
| NCT04178044 | PHASE1 | UNKNOWN | Phase Ⅰ Clinical Study Protocol of GB223 Monoclonal Antibody Injection |
| NCT04798326 | PHASE1 | COMPLETED | Comparing of the Pharmacokinetic, Pharmacodynamic, Safety and Immunogenicity of MW032 and Xgeva® in Healthy Adults |
| NCT06008483 | PHASE1 | UNKNOWN | A Dose Finding Study to Treat Bone Tumor(s) |
| NCT04634227 | EARLY_PHASE1 | ACTIVE_NOT_RECRUITING | Gemcitabine Plus Ascorbate for Sarcoma in Adults (Pilot) |
| NCT06171282 | EARLY_PHASE1 | RECRUITING | A Clinical Study on Oncolytic Virus Injection (R130) for the Treatment of Advanced Bone and Soft Tissue Tumors |
| NCT05075889 | EARLY_PHASE1 | COMPLETED | Utility of ICG in Benign Bone Tumors |
| NCT05851456 | EARLY_PHASE1 | UNKNOWN | A Clinical Study on Oncolytic Virus Injection (R130) for the Treatment of Relapsed/Refractory Bone and Soft Tissue Tumors |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| ZOLEDRONIC ACID ANHYDROUS | 4 | 6 |
| IBANDRONIC ACID | 4 | 3 |
| INDOCYANINE GREEN ACID FORM | 4 | 2 |
| ALECTINIB | 4 | 1 |
| FERUMOXYTOL | 4 | 1 |
| GUANABENZ ACETATE | 4 | 1 |
| LOMUSTINE | 4 | 1 |
| SODIUM FLUORIDE F 18 | 4 | 1 |
| TRABECTEDIN | 4 | 1 |
| FIBRIN | 3 | 1 |
| FLUORIDE ION | 3 | 1 |
| ELRAGLUSIB | 2 | 1 |
| ROBATUMUMAB | 2 | 1 |
| TALFIRASTIDE | 2 | 1 |
| DOTMP SM-153 | 1 | 1 |
| FLUORIDE | 0 | 1 |