Overview

NCI 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. [1]

Tenosynovial giant cell tumor, diffuse types most frequently harbor alterations in NOTCH1, TP53, PDGFRA, NOTCH3, and MECOM [2].

Most Commonly Altered Genes in Tenosynovial Giant Cell Tumor, Diffuse Type

NOTCH1 Mutation, NOTCH1 Missense, TP53 c.217-c.1178 Missense, TP53 R175H, and TP53 Mutation are the most common alterations in tenosynovial giant cell tumor, diffuse type [2].

Top Alterations in Tenosynovial Giant Cell Tumor, Diffuse Type

Disease Details

Synonyms
Diffuse Giant Cell Neoplasm of the Tenosynovium, Diffuse Tenosynovial Giant Cell Tumor, Pigmented Villonodular Synovitis, Diffuse Giant Cell Tumor of the Tenosynovium, Diffuse Giant Cell Tumor of Tendon Sheath, Diffuse Giant Cell Tumor of Tenosynovium, Diffuse Tenosynovial Giant Cell Neoplasm, Diffuse Giant Cell Neoplasm of Tenosynovium, Diffuse Giant Cell Neoplasm of Tendon Sheath
Parent(s)
Tenosynovial Giant Cell Tumor
OncoTree Name
Tenosynovial Giant Cell Tumor Diffuse Type
OncoTree Code
TGCT

References

1. National Cancer Institute. NCI Thesaurus Version 18.11d. https://ncit.nci.nih.gov/ncitbrowser/ [2018-08-28]. [2018-09-21].

2. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

3. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.