Details of Disease

General Information of Disease (ID: DIS0RGK9)

Disease Name Bone giant cell tumor
Synonyms
osteoclastoma; giant cell myeloma; giant cell neoplasm of bone; benign bone giant cell tumour; GCT of bone; giant cell tumour of bone; giant cell tumor of bone; giant cell tumor of bone (morphologic abnormality); giant cell tumor of the bone; giant cell tumour of bone NOS (morphologic abnormality); giant cell tumor, benign; Osteoclastoma, benign; giant cell tumour of bone (morphologic abnormality); benign bone giant cell tumor; giant cell tumor of bone NOS (morphologic abnormality); giant cell tumour of the bone
Definition
A benign but locally aggressive tumor that arises from the bone and is composed of mononuclear cells admixed with macrophages and osteoclast-like giant cells. It usually arises from the ends of long bones or the vertebrae. Clinical presentation includes pain, edema, and decreased range of motion in the affected joint.
Disease Hierarchy
DIS95A0A: Bone sarcoma
DIS0RGK9: Bone giant cell tumor
Disease Identifiers
MONDO ID
MONDO_0005674
MESH ID
D018212
UMLS CUI
C0206638
MedGen ID
64624
HPO ID
HP:0011847
Orphanet ID
363976
SNOMED CT ID
57500000

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)
This Disease is Treated as An Indication in 1 Approved Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
Zoledronate DMIXC7G Approved Small molecular drug [1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 6 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CEBPB TTUI35N Strong Biomarker [2]
CTSA TT5NILS Strong Biomarker [3]
TNFSF11 TT9E8HR Strong Biomarker [4]
CTSK TTDZN01 Definitive Altered Expression [5]
RUNX2 TTD6SZ8 Definitive Altered Expression [6]
TNFRSF11A TT3K9S2 Definitive Biomarker [7]
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⏷ Show the Full List of 6 DTT(s)
This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
DIO3 DET89OV Strong Genetic Variation [8]
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This Disease Is Related to 10 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
COA1 OTHSX40F Strong Biomarker [9]
CTSZ OTSCX2LL Strong Altered Expression [3]
DPT OTINRFC7 Strong Biomarker [10]
FGF11 OT6513W2 Strong Altered Expression [11]
H3-3B OT9XHQ3C Strong Genetic Variation [12]
NFIB OTX94PD0 Strong Altered Expression [13]
ODF1 OTTSURLA Strong Biomarker [14]
PDCD5 OT6T2DDL Strong Altered Expression [15]
PDIA6 OT8YBR17 Strong Biomarker [9]
SP7 OT07ETZT Strong Biomarker [16]
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⏷ Show the Full List of 10 DOT(s)

References

1 Giant Cell Tumor of Bone: Review of Current Literature, Evaluation, and Treatment Options. J Knee Surg. 2019 Apr;32(4):331-336.
2 Rapamycin inhibits osteoclast formation in giant cell tumor of bone through the C/EBP - MafB axis.J Mol Med (Berl). 2012 Jan;90(1):25-30. doi: 10.1007/s00109-011-0823-6. Epub 2011 Nov 10.
3 Cloning and complete coding sequence of a novel human cathepsin expressed in giant cells of osteoclastomas.J Bone Miner Res. 1995 Aug;10(8):1197-202. doi: 10.1002/jbmr.5650100809.
4 Histone H3.3 mutation in giant cell tumor of bone: an update in pathology.Med Mol Morphol. 2020 Mar;53(1):1-6. doi: 10.1007/s00795-019-00238-1. Epub 2019 Nov 20.
5 Cysteine proteinases in chondrosarcomas.Matrix Biol. 2001 Jan;19(8):717-25. doi: 10.1016/s0945-053x(00)00124-4.
6 Genome-Wide Transcriptome Profiling of the Neoplastic Giant Cell Tumor of Bone Stromal Cells by RNA Sequencing.J Cell Biochem. 2017 Jun;118(6):1349-1360. doi: 10.1002/jcb.25792. Epub 2017 Jan 10.
7 Challenges of denosumab in giant cell tumor of bone, and other giant cell-rich tumors of bone.Curr Opin Oncol. 2019 Jul;31(4):329-335. doi: 10.1097/CCO.0000000000000529.
8 Epigenetic silencing of genes and microRNAs within the imprinted Dlk1-Dio3 region at human chromosome 14.32 in giant cell tumor of bone.BMC Cancer. 2014 Jul 9;14:495. doi: 10.1186/1471-2407-14-495.
9 MiR-127 and miR-376a act as tumor suppressors by invivo targeting of COA1 and PDIA6 in giant cell tumor of bone.Cancer Lett. 2017 Nov 28;409:49-55. doi: 10.1016/j.canlet.2017.08.029. Epub 2017 Sep 1.
10 Gene expression profiling of giant cell tumor of bone reveals downregulation of extracellular matrix components decorin and lumican associated with lung metastasis.Virchows Arch. 2014 Dec;465(6):703-13. doi: 10.1007/s00428-014-1666-7. Epub 2014 Oct 11.
11 Hypoxia-Induced Fibroblast Growth Factor 11 Stimulates Osteoclast-Mediated Resorption of Bone.Calcif Tissue Int. 2017 Apr;100(4):382-391. doi: 10.1007/s00223-016-0228-1. Epub 2017 Jan 18.
12 Mutation-driven epigenetic alterations as a defining hallmark of central cartilaginous tumours, giant cell tumour of bone and chondroblastoma.Virchows Arch. 2020 Jan;476(1):135-146. doi: 10.1007/s00428-019-02699-2. Epub 2019 Nov 14.
13 MicroRNA expression profiles in metastatic and non-metastatic giant cell tumor of bone.Histol Histopathol. 2013 May;28(5):671-8. doi: 10.14670/HH-28.671. Epub 2012 Nov 21.
14 Cytological properties of stromal cells derived from giant cell tumor of bone (GCTSC) which can induce osteoclast formation of human blood monocytes without cell to cell contact.J Orthop Res. 2005 Sep;23(5):979-87. doi: 10.1016/j.orthres.2005.01.004.
15 Clinicopathological Significance of Decreased Expression of the Tumor Inhibitor Gene PDCD5 in Osteoclastoma.Genet Test Mol Biomarkers. 2019 Nov;23(11):807-814. doi: 10.1089/gtmb.2019.0082. Epub 2019 Oct 22.
16 Expression of preosteoblast markers and Cbfa-1 and Osterix gene transcripts in stromal tumour cells of giant cell tumour of bone.Bone. 2004 Mar;34(3):393-401. doi: 10.1016/j.bone.2003.10.013.