Bone neoplasm

Summary

Bone neoplasm (MONDO:0019060) is a cancer (an umbrella term covering 20 Mondo subtypes) with 4 GWAS associations across 7 studies and 94 clinical trials. Top therapeutic interventions include zoledronic acid anhydrous, ibandronic acid, and indocyanine green acid form. A subtype of bone disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Classification: Cancer
• Umbrella term: 20 Mondo subtypes
• GWAS associations: 4
• Clinical trials: 94

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	bone neoplasm
Mondo ID	MONDO:0019060
EFO	EFO:0003820
Orphanet	68411
ICD-10-CM	C40-C41
NCIT	C9343
UMLS	C2732838
MedGen	488993
GARD	0018892
Anatomy (UBERON)	UBERON:0002481
Is cancer (heuristic)	yes

Also known as: bone neoplasm · bone neoplasms · bone tissue neoplasm · bone tissue tumor · bone tissue tumour · bone tumor · bone tumors · bone tumour · bone tumours · neoplasm of bone · neoplasm of bone tissue · neoplasm of the bone · osseous neoplasm · osseous tumor · osseous tumour · primary bone cancer · primary malignant neoplasm of bone · rare bone tumour · tumor of bone · tumor of bone tissue (+4 more)

Data availability: 4 GWAS associations (7 studies).

Disease family

This is a subtype of bone disorder. 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 › skeletal system disorder › bone disorder › bone neoplasm

Related subtypes (26): bone remodeling disease, disease of bone structure, mucopolysaccharidosis type 1, bone inflammation disease, Baastrup syndrome, periostitis, osteonecrosis, bone development disease, ainhum, cervical rib disease, coxoauricular syndrome, metachondromatosis, mucopolysaccharidosis type 9, Sagliker syndrome, mixed sclerosing bone dystrophy with extra-skeletal manifestations, GM1 gangliosidosis, skeletal dysplasia, autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome, mucopolysaccharidosis type 3, skull disorder, Duane anomaly-myopathy-scoliosis syndrome, mueller-weiss syndrome, SLC10A7-congenital disorder of glycosylation, metabolic bone disorder, proteoglycan-related bone disorder, ACAN-related short stature spectrum

Subtypes (20): bone benign neoplasm, bone cancer, notochordal tumor, hereditary multiple osteochondromas, diaphyseal medullary stenosis-bone malignancy syndrome, hyperparathyroidism 1, hyperparathyroidism 2 with jaw tumors, OSLAM syndrome, Ollier disease, neonatal severe primary hyperparathyroidism, hyperparathyroidism 3, juvenile hyaline fibromatosis, aneurysmal bone cyst, solitary bone cyst, Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone, neoplasm of femur, vascular bone neoplasm, hyperparathyroidism 4, skull neoplasm, congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome

Genetics & variants

GWAS landscape

4 GWAS associations across 7 studies. Top hits map to 4 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs368480426	5e-12	USP20	G	3.3
rs549928751	3e-11	LRP1B	C	2.97
rs117510937	3e-11	C10orf143	G	2.46
rs116067048	4e-11	THSD7B	C	2.03

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90477194	Verma A	2024	1,872	447,066	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477193	Verma A	2024	507	120,862	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90479792	Verma A	2024	507	120,862	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90435591	Zhou W	2018	424	408,537	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90042866	Jiang L	2021	298	456,050	A generalized linear mixed model association tool for biobank-scale data.
GCST90041918	Jiang L	2021	127	456,149	A generalized linear mixed model association tool for biobank-scale data.
GCST90041824	Jiang L	2021	121	456,227	A generalized linear mixed model association tool for biobank-scale data.

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	4

MAF distribution

Bucket	Variants
common (>=0.05)	0
low_freq (0.01-0.05)	0
rare (<0.01)	4
unknown	0

Functional consequences

Consequence	Count
intron_variant	2
synonymous_variant	1
intergenic_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs368480426	9	129868064	G>A,C	0	synonymous_variant	USP20	5e-12	Tier 4: intronic/intergenic
rs549928751	2	141231758	C>T	0	intron_variant	LRP1B	3e-11	Tier 4: intronic/intergenic
rs117510937	10	130043853	G>A	0	intergenic_variant	C10orf143	3e-11	Tier 4: intronic/intergenic
rs116067048	2	137141072	C>A,G	0.002	intron_variant	THSD7B	4e-11	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

1 approved, 1 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Denosumab	Approved (phase 4)
Ibandronic Acid	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Carboplatin, Catequentinib, Doxorubicin, Etoricoxib, Gemcitabine, Irinotecan, Lomustine, Paclitaxel.

Clinical trials & evidence

Clinical trials

Clinical trials: 94.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	59
PHASE2	8
PHASE1	8
PHASE3	6
PHASE4	5
EARLY_PHASE1	5
PHASE1/PHASE2	2
PHASE2/PHASE3	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00211211	PHASE4	COMPLETED	FREE Study - Fracture Reduction Evaluation
NCT00381095	PHASE4	TERMINATED	A Study To Evaluate Pregabalin In The Treatment Of Moderate To Severe Chronic Bone Pain Related To Metastatic Cancer
NCT00434447	PHASE4	COMPLETED	Long Term Efficacy and Safety of Zoledronic Acid Treatment in Patients With Bone Metastases
NCT01304121	PHASE4	COMPLETED	Bioactive Glass Granules in Filling of Bone Defects
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
NCT00851162	PHASE2/PHASE3	WITHDRAWN	Using Mesenchymal Stem Cells to Fill Bone Void Defects in Patients With Benign Bone Lesions
NCT01479283	PHASE3	COMPLETED	Prophylactic Antibiotic Regimens in Tumor Surgery (PARITY)
NCT02153593	PHASE3	TERMINATED	Postoperative Bleeding Prevention in Massive Bone Tumour Resection
NCT03389724	PHASE3	COMPLETED	Prevention of Chemotherapy Induced Cardiotoxicity in Children With Bone Tumors and Acute Myeloid Leukemia
NCT03678883	PHASE2	ACTIVE_NOT_RECRUITING	9-ING-41 in Patients With Advanced Cancers
NCT06165419	PHASE2	RECRUITING	Definitive Radiation for High-Risk Spine Metastases
NCT00095017	PHASE2	WITHDRAWN	Safety and Efficacy of an Investigational Drug Versus Placebo in the Treatment of Cancer Pain (0663-083)
NCT00478270	PHASE2	WITHDRAWN	A Study of Loading Doses of Intravenous Bondronat (Ibandronate) in Patients With Breast Cancer and Metastatic Bone Disease.
NCT00558272	PHASE2	COMPLETED	Study to Evaluate the Safety and Effects AZD0530 on Prostate and Breast Cancer Subjects With Metastatic Bone Disease
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
NCT03527888	PHASE2	UNKNOWN	Study of Anlotinib in Patients With Primary Malignant Bone Tumors
NCT04310410	PHASE1/PHASE2	COMPLETED	Feasibility of Combined Focused Ultrasound and Radiotherapy Treatment in Patients With Painful Bone Metastasis
NCT05131386	PHASE2	UNKNOWN	Multicohort Trial of Trabectedin and Low-dose Radiation Therapy in Advanced/Metastatic Sarcomas
NCT07197645	PHASE1	RECRUITING	Samarium Optimized for Long-lasting Analgesia in Cancerous End-stage Bone Pain
NCT00168129	PHASE1	COMPLETED	Helical Tomotherapy as a Radiotherapy Technique for Treating Bone Metastases
NCT02274623	PHASE1	COMPLETED	Effect of CTAP101 Capsules on Ca/iPTH in Advanced Breast/Prostate Cancer Patients Treated With Denosumab/Zoledronic Acid
NCT02303366	PHASE1	COMPLETED	Pilot Study of Stereotactic Ablation for Oligometastatic Breast Neoplasia in Combination With the Anti-PD-1 Antibody MK-3475
NCT02398058	PHASE1	COMPLETED	Trabectedin Plus Olaparib in Metastatic or Advanced Sarcomas (TOMAS)
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
NCT06455722	EARLY_PHASE1	UNKNOWN	[68Ga]Ga-P15-041 PET/CT in Variety of Bone Tumors
NCT02109952	Not specified	ACTIVE_NOT_RECRUITING	Biomechanics of Metastatic Defects in Bone
NCT02677961	Not specified	RECRUITING	An Electronic Health Record (EHR)-Based Comprehensive Bone and Soft Tissue Tumor Registry
NCT03442465	Not specified	RECRUITING	Assessment of Healing and Function After Reconstruction Surgery for Bone Sarcomas
NCT04307914	Not specified	ACTIVE_NOT_RECRUITING	Focused Ultrasound and RadioTHERapy for Noninvasive Palliative Pain Treatment in Patients With Bone Metastases
NCT04394052	Not specified	RECRUITING	Novel Imaging Techniques for the Characterization of Musculoskeletal Tumors II

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
ZOLEDRONIC ACID ANHYDROUS	4	9
IBANDRONIC ACID	4	3
INDOCYANINE GREEN ACID FORM	4	2
TRABECTEDIN	4	2
CALCIFEDIOL	4	1
LOMUSTINE	4	1
PREGABALIN	4	1
CATEQUENTINIB	3	1
FIBRIN	3	1
SARACATINIB	3	1
ELRAGLUSIB	2	1
DOTMP SM-153	1	1