Details of Disease

General Information of Disease (ID: DISHVF2C)

• Disease Name: Tenosynovial giant cell tumor
• Synonyms: tenosynovial giant cell tumor; tenosynovial giant cell neoplasm; tendon sheath giant cell tumour; tendon sheath giant cell tumor; tendon sheath giant cell neoplasm; giant cell tumour of the Tenosynovium; giant cell tumour of tendon sheath; giant cell tumour of Tenosynovium; giant cell tumor of the Tenosynovium; giant cell tumor of tendon sheath; giant cell tumor of Tenosynovium; giant cell neoplasm of the Tenosynovium; giant cell neoplasm of tendon sheath; giant cell neoplasm of Tenosynovium; fibrous histiocytoma of tendon sheath
• Definition: A tumor usually arising in the synovium of joints, bursa or tendon sheath. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. According to the growth pattern, it is classified as localized or diffuse.
• Disease Hierarchy:
  DIS8LOIN: Giant cell tumor
  DISYSO48: Synovium neoplasm
  DIS5D0E2: Connective tissue neoplasm
  DISZN074: Tendon sheath disorder
  DISHVF2C: Tenosynovial giant cell tumor
• Disease Identifiers:
  MONDO ID: MONDO_0002522
  MESH ID: D000070779
  UMLS CUI: C1318543
  MedGen ID: 232927
  SNOMED CT ID: 128777004

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	Limited	Genetic Variation	[1]
COL6A3	TT5WCAH	Strong	Genetic Variation	[1]

References

• [1] Massively parallel sequencing of tenosynovial giant cell tumors reveals novel CSF1 fusion transcripts and novel somatic CBL mutations.Int J Cancer. 2019 Dec 15;145(12):3276-3284. doi: 10.1002/ijc.32421. Epub 2019 May 31.