MCID: BNG036
MIFTS: 51

Bone Giant Cell Tumor

Categories: Bone diseases, Cancer diseases, Rare diseases

Aliases & Classifications for Bone Giant Cell Tumor

MalaCards integrated aliases for Bone Giant Cell Tumor:

Name: Bone Giant Cell Tumor 12 15
Giant Cell Tumor of Bone 12 53 59 37 44 73
Osteoclastoma 12 53 59 55
Gct of Bone 53 59
Giant Cell Neoplasm of Bone 12
Giant Cell Myeloma 12

Classifications:

Orphanet: 59  
Rare bone diseases


External Ids:

Disease Ontology 12 DOID:4305
MeSH 44 D018212
NCIt 50 C121932
SNOMED-CT 68 57500000
Orphanet 59 ORPHA363976
UMLS via Orphanet 74 C0206638
ICD10 via Orphanet 34 D48.0
KEGG 37 H01470
UMLS 73 C0206638

Summaries for Bone Giant Cell Tumor

Disease Ontology : 12 A giant cell tumor and bone cancer and bone tissue neoplasm that results in the presence of multinucleated giant cells (osteoclast-like cell).

MalaCards based summary : Bone Giant Cell Tumor, also known as giant cell tumor of bone, is related to malignant giant cell tumor and giant cell tumor, and has symptoms including pain An important gene associated with Bone Giant Cell Tumor is ACP5 (Acid Phosphatase 5, Tartrate Resistant), and among its related pathways/superpathways are Degradation of the extracellular matrix and RANK Signaling in Osteoclasts. The drugs Xgeva and Denosumab have been mentioned in the context of this disorder. Affiliated tissues include bone, monocytes and lung, and related phenotypes are homeostasis/metabolism and hematopoietic system

Wikipedia : 76 Giant-cell tumor of the bone (GCTOB) also called Osteoclastoma is a relatively uncommon tumor of the... more...

Related Diseases for Bone Giant Cell Tumor

Diseases related to Bone Giant Cell Tumor via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 80)
# Related Disease Score Top Affiliating Genes
1 malignant giant cell tumor 30.9 ACP5 H3F3A
2 giant cell tumor 30.6 CALCA CTSK H3F3A TNFSF11 VIM
3 paget's disease of bone 30.2 ACP5 CALCA TNFSF11
4 aneurysmal bone cysts 30.0 CALCA TNFSF11
5 chondroblastoma 29.9 H3F3A TNFSF11
6 bone resorption disease 29.8 ACP5 CALCA CTSK SPP1 TNFSF11
7 villonodular synovitis 29.6 ACP5 TNFSF11 VIM
8 fibrosarcoma 29.5 CTSB THBS1 VIM
9 pigmented villonodular synovitis 29.5 ACP5 CALCR TNFSF11
10 bone disease 29.4 ACP5 CALCA CTSK SPP1 TNFSF11
11 bone giant cell sarcoma 11.3
12 paget disease of bone 6 11.2
13 retroperitoneal fibrosis 10.2 SPP1 VIM
14 tendinitis 10.2 ACP5 SPP1
15 sarcoma 10.2
16 hypophosphatasia, adult 10.1 CALCA SPP1
17 secondary hyperparathyroidism of renal origin 10.1 ACP5 CALCA
18 giant cell reparative granuloma 10.1 CALCA CALCR
19 osteofibrous dysplasia 10.1 SPP1 VIM
20 calcific tendinitis 10.1 CTSK SPP1
21 hypercementosis 10.1 ACP5 CTSK SPP1
22 paget disease of bone 3 10.1
23 epulis 10.1
24 rhabdoid tumor predisposition syndrome 1 10.1 SPP1 VIM
25 chondrosarcoma 10.1
26 osteogenic sarcoma 10.1
27 degos 'en cocarde' erythrokeratoderma 10.1
28 multicentric reticulohistiocytosis 10.0 TNFSF11 VIM
29 periapical periodontitis 10.0 ACP5 TNFSF11
30 paget disease of bone 5, juvenile-onset 10.0 CALCA TNFSF11
31 multicentric carpotarsal osteolysis syndrome 10.0 CTSK TNFSF11
32 ischemic bone disease 9.9 ACP5 TNFSF11
33 cherubism 9.9
34 leukemia 9.9
35 transitional cell carcinoma 9.9
36 hairy cell leukemia 9.9
37 astrocytoma 9.9
38 grade iii astrocytoma 9.9
39 papillary transitional carcinoma 9.9
40 enchondroma 9.9
41 teeth hard tissue disease 9.9 ACP5 TNFSF11
42 tooth resorption 9.9 ACP5 CTSK TNFSF11
43 osteopetrosis, autosomal dominant 2 9.9 ACP5 CTSK TNFSF11
44 osteomyelitis 9.9 ACP5 CTSK TNFSF11
45 bone inflammation disease 9.9 ACP5 CTSK TNFSF11
46 glucocorticoid-induced osteoporosis 9.9 ACP5 CALCA TNFSF11
47 thyroid gland disease 9.9 CALCA THRA
48 breast adenocarcinoma 9.8 CALCA CTSK TNFSF11
49 endosteal hyperostosis, autosomal dominant 9.8 CTSK TNFSF11
50 renal cell carcinoma, nonpapillary 9.8

Graphical network of the top 20 diseases related to Bone Giant Cell Tumor:



Diseases related to Bone Giant Cell Tumor

Symptoms & Phenotypes for Bone Giant Cell Tumor

UMLS symptoms related to Bone Giant Cell Tumor:


pain

MGI Mouse Phenotypes related to Bone Giant Cell Tumor:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.97 CALCR CTSB CTSK SPP1 THBS1 THRA
2 hematopoietic system MP:0005397 9.95 CALCR CTSK SPP1 THBS1 THRA TNFSF11
3 immune system MP:0005387 9.92 CALCR CTSB CTSK SPP1 THBS1 THRA
4 limbs/digits/tail MP:0005371 9.65 CALCR CTSK THBS1 THRA TNFSF11
5 neoplasm MP:0002006 9.55 CTSB SPP1 THBS1 THRA TNFSF11
6 respiratory system MP:0005388 9.35 CTSK SPP1 THBS1 TNFSF11 VIM
7 skeleton MP:0005390 9.1 CALCR CTSK SPP1 THBS1 THRA TNFSF11

Drugs & Therapeutics for Bone Giant Cell Tumor

FDA approved drugs:

# Drug Name Active Ingredient(s) 18 Company Approval Date
1
Xgeva 18 49 DENOSUMAB Amgen June 2013/ November 2010

Drugs for Bone Giant Cell Tumor (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Denosumab Approved Phase 4,Phase 3,Phase 2,Phase 1 615258-40-7
2 Bone Density Conservation Agents Phase 4,Phase 3,Phase 2,Phase 1
3 Antibodies Phase 4,Phase 3
4 Immunoglobulins Phase 4,Phase 3
5 Antibodies, Monoclonal Phase 4,Phase 3
6 Immunoglobulin G Phase 4
7 Immunologic Factors Phase 4,Early Phase 1
8
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
9
Ethanol Approved Phase 3 64-17-5 702
10
Phenol Approved, Experimental Phase 3 108-95-2 996
11
Zoledronic acid Approved Phase 3,Phase 2,Phase 1 118072-93-8 68740
12 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
13 Cola Phase 3,Early Phase 1
14 Central Nervous System Depressants Phase 3
15 Adjuvants, Anesthesia Phase 3
16 Liver Extracts Phase 3,Early Phase 1
17 Anesthetics, Intravenous Phase 3
18 Analgesics, Opioid Phase 3
19 Peripheral Nervous System Agents Phase 3
20 Anesthetics, General Phase 3
21 Analgesics Phase 3
22 Narcotics Phase 3
23 Anesthetics Phase 3
24 Diphosphonates Phase 3,Phase 2
25 Polymethyl Methacrylate Phase 3
26
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
27
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
28 Micronutrients Phase 2
29 Calciferol Phase 2
30 Trace Elements Phase 2
31 Calcium, Dietary Phase 2
32 Vitamins Phase 2
33 Protein Kinase Inhibitors Phase 2
34 Pharmaceutical Solutions Phase 2,Phase 1
35
Cyclophosphamide Approved, Investigational Early Phase 1 6055-19-2, 50-18-0 2907
36 Calcium Supplement
37 Immunosuppressive Agents Early Phase 1
38 Antineoplastic Agents, Alkylating Early Phase 1
39 Alkylating Agents Early Phase 1
40 Antirheumatic Agents Early Phase 1

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 Long-term Safety Follow-up of Subjects With Giant Cell Tumor of Bone Treated With Denosumab in Study 20062004 Active, not recruiting NCT03301857 Phase 4 Denosumab (Cohort A)
2 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
3 Characteristics and Mechanism of Denosumab-treated Giant Cell Tumor of Bone Recruiting NCT03259152 Phase 3 Denosumab
4 Local Bisphosphonate Effect on Recurrence Rate in Extremity Giant Cell Tumor of Bone Recruiting NCT03295981 Phase 3 Zoledronic Acid
5 Study of Denosumab in Subjects With Giant Cell Tumor of Bone Completed NCT00680992 Phase 2 Denosumab
6 Safety and Efficacy Study of Denosumab in Patients With Recurrent or Unresectable Giant Cell Tumor of Bone Completed NCT00396279 Phase 2
7 Denosumab: A Potential Treatment Option for Aneurysmal Bone Cysts Completed NCT03415477 Phase 1, Phase 2 Denosumab (Xgeva)
8 Trial of Dasatinib in Advanced Sarcomas Completed NCT00464620 Phase 2 Dasatinib
9 Reduced Dose-density of Denosumab for Unresectable GCTB Not yet recruiting NCT03620149 Phase 2 Denosumab 120 MG/1.7 ML Subcutaneous Solution [XGEVA]
10 Adjuvant Zoledronic Acid in High Risk Giant Cell Tumour of Bone (GCT) Terminated NCT00889590 Phase 2 Zoledronic acid
11 Study of the Effect of Zoledronate on Local Recurrence After Surgical Treatment of Giant Cell Tumors of Bone Zométa Terminated NCT01564121 Phase 1, Phase 2 acid Zoledronic
12 Giant Cell Tumor of the Extremities Treated With Surgery and/or Medical Treatment Completed NCT02996734
13 Subtotal Parathyroidectomy or Total Parathyroidectomy With Autograft in Chronic Kidney Disease Patients Under Dialysis Active, not recruiting NCT02464072 Not Applicable
14 Safety and Efficacy of Post-operative Denosumab Strategy for Giant Cell Tumor of Bone Treatment in China Not yet recruiting NCT03358212 Denosumab
15 Cyclophosphamide and Cryoablation in Treating Patients With Advanced or Metastatic Epithelial Cancer Terminated NCT00499733 Early Phase 1 cyclophosphamide

Search NIH Clinical Center for Bone Giant Cell Tumor

Cochrane evidence based reviews: giant cell tumor of bone

Genetic Tests for Bone Giant Cell Tumor

Anatomical Context for Bone Giant Cell Tumor

MalaCards organs/tissues related to Bone Giant Cell Tumor:

41
Bone, Monocytes, Lung, Lymph Node, Liver, Thyroid, Spinal Cord

Publications for Bone Giant Cell Tumor

Articles related to Bone Giant Cell Tumor:

(show top 50) (show all 568)
# Title Authors Year
1
Osteonecrosis of the Jaw and Rebound Hypercalcemia in Young People Treated With Denosumab for Giant Cell Tumor of Bone. ( 29211870 )
2018
2
Retrospective investigation of "paint brush borders" sign in association with local recurrence of giant cell tumor of bone after intralesional curettage. ( 29255669 )
2018
3
Mid- to long-term clinical outcome of giant cell tumor of bone treated with calcium phosphate cement following thorough curettage and phenolization. ( 29315595 )
2018
4
Giant Cell Tumor of Bone in Patients 55 Years and Older: A Study of 34 Patients. ( 29425276 )
2018
5
Norcantharidin modulates the miR-30a/Metadherin/AKT signaling axis to suppress proliferation and metastasis of stromal tumor cells in giant cell tumor of bone. ( 29710674 )
2018
6
An extremely rare case of primary malignancy in giant cell tumor of bone, arising in the right femur and harboring H3F3A mutation. ( 29970305 )
2018
7
Detection of H3F3A p.G35W and p.G35R in giant cell tumor of bone by Allele Specific Locked Nucleic Acid quantitative PCR (ASLNAqPCR). ( 29254795 )
2018
8
Immunohistochemistry for histone H3G34W and H3K36M is highly specific for giant cell tumor of bone and chondroblastoma, respectively, in FNA and core needle biopsy. ( 29757500 )
2018
9
Response evaluation of giant-cell tumor of bone treated by denosumab: Histogram and texture analysis of CT images. ( 29429890 )
2018
10
Osteoscopic Surgery of Giant Cell Tumor of Bone for Preservation of Proximal Fibula. ( 29715130 )
2018
11
Giant cell tumor of bone: updated molecular pathogenesis and tumor biology. ( 29944971 )
2018
12
Prognosis of metastatic giant cell tumor of bone in the pre-denosumab era. A systematic review and a meta-analysis. ( 29741702 )
2018
13
Magnetic resonance feature of "paintbrush borders" sign as a novel way to predict recurrence of giant cell tumor of bone after curettage: a pilot study. ( 29239274 )
2018
14
ALCAM+ stromal cells: role in giant cell tumor of bone progression. ( 29463803 )
2018
15
Expression of H3.3 G34W Distinguishes Giant Cell Tumor of Bone From Its Major Giant Cell-containing Bone and Soft Tissue Mimics, in Particular Aneurysmal Bone Cyst and Giant Cell Tumor of Soft Tissue. ( 29489506 )
2018
16
Primary thoracic giant cell tumor of bone sensitive to steroids. ( 29502130 )
2018
17
Denosumab May Increase the Risk of Local Recurrence in Patients with Giant-Cell Tumor of Bone Treated with Curettage. ( 29557866 )
2018
18
Giant Cell Tumor of Bone Presenting as Left Posteromedial Chest Wall Tumor. ( 29577929 )
2018
19
Denosumab treatment of inoperable or locally advanced giant cell tumor of bone - Multicenter analysis outside clinical trial. ( 29650420 )
2018
20
STAT1, IGF1, RAC1, and MDM2 Are Associated with Recurrence of Giant Cell Tumor of Bone. ( 29651441 )
2018
21
Incidence and demographics of giant cell tumor of bone in The Netherlands: First nationwide Pathology Registry Study. ( 29987945 )
2018
22
Safety and efficacy of denosumab in the treatment of pulmonary metastatic giant cell tumor of bone. ( 30013396 )
2018
23
Left orbital roof giant cell tumor of bone: A case report. ( 30034918 )
2018
24
Clinical outcome of primary giant cell tumor of bone after curettage with or without perioperative denosumab in Japan: from a questionnaire for JCOG 1610 study. ( 30089488 )
2018
25
Epidemiology of benign giant cell tumor of bone in the Chinese population. ( 30148063 )
2018
26
Intratibial injection of patient-derived tumor cells from giant cell tumor of bone elicits osteolytic reaction in nude mouse. ( 30214599 )
2018
27
Assessment of denosumab treatment effects and imaging response in patients with giant cell tumor of bone. ( 30231890 )
2018
28
Giant Cell Tumor of Bone: Review of Current Literature, Evaluation, and Treatment Options. ( 30449024 )
2018
29
Management of an Unusual Periprosthetic Giant Cell Tumor of Bone of the Proximal Tibia. ( 30465034 )
2018
30
Secondary malignant giant cell tumor of bone with histone H3.3 mutation: A case series. ( 30522923 )
2018
31
Stromal Cell-Derived CCL20 Promotes Tumor Progression and Osteolysis in Giant Cell Tumor of Bone. ( 30537747 )
2018
32
Giant cell tumor of bone under Denosumab treatment. ( 28970075 )
2018
33
TRAIL-R1 as a novel surface marker for circulating giant cell tumor of bone. ( 28881598 )
2017
34
Osseous Myopericytoma Simulating a Giant Cell Tumor of Bone: A Case Report. ( 29244665 )
2017
35
Highly recurrent H3F3A mutations with additional epigenetic regulator alterations in giant cell tumor of bone. ( 28545165 )
2017
36
Transformation of Benign Giant Cell Tumor of Bone Into Epithelioid Angiosarcoma. ( 29309463 )
2017
37
Giant Cell Tumor of Bone and Other Giant Cell-Rich Lesions. ( 28750392 )
2017
38
TGF-I^2-induced ANGPTL4 expression promotes tumor progression and osteoclast differentiation in giant cell tumor of bone. ( 28903395 )
2017
39
Development and validation of a prognostic index to predict pulmonary metastasis of giant cell tumor of bone. ( 29296223 )
2017
40
H3F3A (Histone 3.3) G34W Immunohistochemistry: A Reliable Marker Defining Benign and Malignant Giant Cell Tumor of Bone. ( 28505000 )
2017
41
Multicentric giant cell tumor of bone: Case series of 4 patients. ( 28869118 )
2017
42
Giant cell tumor of bone: imaging and histology changes after denosumab treatment : Comment on: von Borstel D, Taguibao RA, Strle NA, Burns JE. Giant cell tumor of the bone: Aggressive case initially treated with denosumab and intralesional surgery. Skeletal Radiol 2017;46:571-578. ( 28389819 )
2017
43
In Vitro Study of the Effects of Denosumab on Giant Cell Tumor of Bone: Comparison with Zoledronic Acid. ( 29159783 )
2017
44
MicroRNA-30c suppressed giant-cell tumor of bone cell metastasis and growth via targeting HOXA1. ( 29164581 )
2017
45
Two-stage surgery on pregnant woman with a giant cell tumor of bone who refused blood transfusion: A case report. ( 26740439 )
2017
46
Reconstruction with β-Tricalcium Phosphate for Giant Cell Tumor of Bone around the Knee. ( 27018512 )
2017
47
Denosumab in patients with giant-cell tumor of bone in Norway: results from a nationwide cohort. ( 28105885 )
2017
48
Intra-articular ectopic ossification associated with denosumab administration for giant cell tumor of bone with intra-articular pathological fracture. ( 28109658 )
2017
49
Freezing Nitrogen Ethanol Composite May be a Viable Approach for Cryotherapy of Human Giant Cell Tumor of Bone. ( 28197783 )
2017
50
Denosumab-treated giant cell tumor of bone. Its histologic spectrum and potential diagnostic pitfalls. ( 28235628 )
2017

Variations for Bone Giant Cell Tumor

Expression for Bone Giant Cell Tumor

Search GEO for disease gene expression data for Bone Giant Cell Tumor.

Pathways for Bone Giant Cell Tumor

GO Terms for Bone Giant Cell Tumor

Cellular components related to Bone Giant Cell Tumor according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.63 CALCA CTSB CTSK SPP1 THBS1 TNFSF11
2 extracellular region GO:0005576 9.5 CALCA CTSB CTSK H3F3A SPP1 THBS1
3 endolysosome lumen GO:0036021 8.62 CTSB CTSK

Biological processes related to Bone Giant Cell Tumor according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.7 CALCA H3F3A SPP1
2 positive regulation of protein kinase B signaling GO:0051897 9.63 CALCR THBS1 TNFSF11
3 proteolysis involved in cellular protein catabolic process GO:0051603 9.57 CTSB CTSK
4 monocyte chemotaxis GO:0002548 9.56 CALCA TNFSF11
5 regulation of heart contraction GO:0008016 9.55 CALCA THRA
6 collagen catabolic process GO:0030574 9.54 CTSB CTSK
7 activation of adenylate cyclase activity GO:0007190 9.51 CALCA CALCR
8 osteoclast differentiation GO:0030316 9.49 CALCR TNFSF11
9 positive regulation of phosphorylation GO:0042327 9.48 THBS1 TNFSF11
10 decidualization GO:0046697 9.43 CTSB SPP1
11 ossification GO:0001503 9.43 ACP5 THRA TNFSF11
12 negative regulation of ossification GO:0030279 9.4 CALCA CALCR
13 positive regulation of bone resorption GO:0045780 9.37 SPP1 TNFSF11
14 negative regulation of interleukin-12 production GO:0032695 9.32 ACP5 THBS1
15 amylin receptor signaling pathway GO:0097647 9.16 CALCA CALCR
16 embryo implantation GO:0007566 9.13 CALCA H3F3A SPP1
17 bone resorption GO:0045453 8.8 ACP5 CTSK TNFSF11

Molecular functions related to Bone Giant Cell Tumor according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix binding GO:0050840 9.16 SPP1 THBS1
2 fibronectin binding GO:0001968 8.96 CTSK THBS1
3 proteoglycan binding GO:0043394 8.8 CTSB CTSK THBS1

Sources for Bone Giant Cell Tumor

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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