Details of Disease

General Information of Disease (ID: DIS8LOIN)

Disease Name Giant cell tumor
Synonyms
giant cell tumours; giant cell tumors; tumour of the giant cell; tumor of the giant cell; giant cell tumours (morphologic abnormality); giant cell tumour NOS (morphologic abnormality); giant cell tumour (qualifier value); giant cell tumour (morphologic abnormality); giant cell tumors (morphologic abnormality); giant cell tumor NOS (morphologic abnormality); giant cell tumor (qualifier value); giant cell tumor (morphologic abnormality); giant cell tumor; giant cell neoplasm
Definition
A benign, intermediate, or malignant tumor that arises from the bone or soft tissue. It is characterized by the presence of multinucleated osteoclast-like giant cells.|editor note: consider separate term for neoplasm (C3055 in NCIT)
Disease Hierarchy
DISTBY9Z: Tumour
DIS8LOIN: Giant cell tumor
Disease Identifiers
MONDO ID
MONDO_0002171
MESH ID
D005870
UMLS CUI
C0017525
MedGen ID
6598
SNOMED CT ID
115238001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CSF1 TT0IQER Limited Genetic Variation [1]
TNFSF11 TT9E8HR Limited Biomarker [2]
COL6A3 TT5WCAH Strong Biomarker [3]
QPCT TTJ7YTV Strong Genetic Variation [4]
UCHL1 TTX9IFP Strong Altered Expression [5]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
EFNA1 OTU2NUA2 Strong Altered Expression [6]
SH3BP2 OT90JNBS Strong Genetic Variation [7]
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References

1 Detection of CSF1 rearrangements deleting the 3' UTR in tenosynovial giant cell tumors.Genes Chromosomes Cancer. 2020 Feb;59(2):96-105. doi: 10.1002/gcc.22807. Epub 2019 Sep 12.
2 Current Molecular Targeted Therapies for Bone and Soft Tissue Sarcomas.Int J Mol Sci. 2018 Mar 5;19(3):739. doi: 10.3390/ijms19030739.
3 Molecular identification of COL6A3-CSF1 fusion transcripts in tenosynovial giant cell tumors.Genes Chromosomes Cancer. 2008 Jan;47(1):21-5. doi: 10.1002/gcc.20501.
4 Incidence and demographics of giant cell tumor of bone in The Netherlands: First nationwide Pathology Registry Study.Acta Orthop. 2018 Oct;89(5):570-574. doi: 10.1080/17453674.2018.1490987. Epub 2018 Jul 10.
5 Rescue of silenced UCHL1 and IGFBP4 expression suppresses clonogenicity of giant cell tumor-derived stromal cells.Cancer Lett. 2013 Aug 9;336(1):61-7. doi: 10.1016/j.canlet.2013.04.011. Epub 2013 Apr 18.
6 Giant cell tumors of the bone: molecular profiling and expression analysis of Ephrin A1 receptor, Claudin 7, CD52, FGFR3 and AMFR.Pathol Res Pract. 2005;201(10):649-63. doi: 10.1016/j.prp.2005.07.005. Epub 2005 Sep 26.
7 Mutations in SH3BP2, the cherubism gene, were not detected in central or peripheral giant cell tumours of the jaw.Br J Oral Maxillofac Surg. 2008 Apr;46(3):229-230. doi: 10.1016/j.bjoms.2007.04.014. Epub 2007 Jun 4.