Details of Disease

General Information of Disease (ID: DISYGQZI)

• Disease Name: Tenosynovial giant cell tumour
• Synonyms: tenosynovial giant cell tumor; tenosynovial giant cell tumours; tenosynovial giant cell tumors; villonodular synovitis; tenosynovial giant cell tumour diffuse type; tenosynovial giant cell tumor diffuse type; tenosynovial giant cell tumour; localized pigmented villonodular synovitis; diffuse-type GCT; diffuse-type giant cell tumor; localised pigmented villonodular synovitis; diffuse-type giant cell tumour; diffuse pigmented villonodular synovitis; villous tenosynovitis; Tenosynovial Giant Cell Tumor; TSGCT; diffuse tenosynovial giant cell tumour; diffuse giant cell tumor of tendon sheath; diffuse giant cell tumour of tendon sheath; diffuse giant cell neoplasm of tendon sheath; pigmented villonodular synovitis; diffuse giant cell neoplasm of the Tenosynovium; diffuse giant cell tumor of Tenosynovium; diffuse giant cell neoplasm of Tenosynovium; diffuse tenosynovial giant cell neoplasm; diffuse tenosynovial giant cell tumor; diffuse giant cell tumour of the Tenosynovium; diffuse giant cell tumor of the Tenosynovium; TGCT; tenosynovial giant cell tumor, diffuse type; diffuse giant cell tumour of Tenosynovium
• Disease Class: 2F7B: Bone/articular cartilage neoplasm
• Definition: A locally aggressive, diffusely infiltrating tumor, arising in the tendon sheath. It is composed of synovial-like mononuclear cells, hemosiderin-laden macrophages, foam cells, and inflammatory cells. Multinucleated osteoclast-like giant cells are usually present, although in a minority of cases they may be absent or rare. It predominantly affects young adults. Symptoms include joint swelling, pain, and joint effusion.
• Disease Hierarchy:
  DISEK84G: Bone benign neoplasm
  DISW2GPY: Synovitis
  DIS77ACK: Rheumatic disorder
  DIS6IGYZ: Benign synovial neoplasm
  DISHVF2C: Tenosynovial giant cell tumor
  DISYGQZI: Tenosynovial giant cell tumour
• ICD Code:
  ICD-11: ICD-11: 2F7B
  ICD-10: ICD-10: D48.0
  Expand ICD-11: 'XH0HZ1
• Disease Identifiers:
  MONDO ID: MONDO_0024686
  MESH ID: D013586
  UMLS CUI: C0039106
  MedGen ID: 11691
  Orphanet ID: 66627
  SNOMED CT ID: 703703002

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Pexidartinib	DMS2J0Z	Approved	NA	[1]

This Disease is Treated as An Indication in 2 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
MCS-110	DM0CL4I	Phase 2	NA	[2]
FPA-008	DM3ZN6Y	Phase 1/2	NA	[3]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CSF1	TT0IQER	Strong	Biomarker	[4]
CSF1R	TT7MRDV	Strong	Biomarker	[4]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MOAP1	OTVF3LUG	Strong	Altered Expression	[5]

References

• [1] Drugs@FDA. U.S. Food and Drug Administration. U.S. Department of Health Human Services. 2019
• [2] Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
• [3] Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
• [4] Nilotinib in locally advanced pigmented villonodular synovitis: a multicentre, open-label, single-arm, phase 2 trial.Lancet Oncol. 2018 May;19(5):639-648. doi: 10.1016/S1470-2045(18)30143-8. Epub 2018 Mar 20.
• [5] Analysis of pigmented villonodular synovitis with genome-wide complementary DNA microarray and tissue array technology reveals insight into potential novel therapeutic approaches.Arthritis Rheum. 2006 Mar;54(3):1009-19. doi: 10.1002/art.21641.