The diagnosis of tenosynovial giant cell tumor (TGCT, also known as pigmented villonodular synovitis [PVNS]) relies upon three key steps: clinical assessment, radiological evaluation and pathological analysis.1,2
TGCT diagnostic pathway: Overview
presentation
- Pain1
- Swelling1
- Limited range
of motion1 - Stiffness1
conditions*
diagnosis
TGCT
diagnosis
Delayed diagnosis is a challenge in TGCT, with the median time from the onset of symptoms to definitive diagnosis reported to be 18 months5
For more information about each step, including some of the current challenges, click on the drop down menus below:
The non-specific symptoms of TGCT can lead to misdiagnosis and a delay in establishing a definitive diagnosis.2,5
Roughly half of all patients experience misdiagnosis.†6
Typical clinical indicators for TGCT include:
However, in some cases, TGCT can be asymptomatic.4
Patients may visit many different healthcare professionals before referral to an orthopedic surgeon or oncologist.2
Patient presents
with a joint issue
Figure adapted from Bernthal NM, et al. 2021. 3
- TGCT is a slow progressive disease, with radiographic changes making early detection difficult2,5,7
- The rarity of TGCT and gaps in understanding can also delay diagnosis2
Typical MRI presentation
CLICK D-TGCT TO FIND OUT MORE
Typically multinodular and well-delineated; embedded in a dense, partially collagenous pseudocapsule8
Images authorised for use courtesy of Dr Eduardo Ortiz Cruz, La Paz University Hospital, Madrid, Spain.
Infiltrative growth pattern; can involve muscle and subcutaneous tissue near the joint8
Erosions and cysts, predominantly seen in joints with a tight capsule (e.g., hip) may lead to joint destruction in the case of chronic disease4
Images authorised for use courtesy of Dr Eduardo Ortiz Cruz, La Paz University Hospital, Madrid, Spain.
MRI is the preferred technique for detection and characterization of TGCT2,4,8,9
T2-weighted imaging and gadolinium contrast is recommended to better identify hemosiderin deposits, a hallmark of TGCT.4,8
X-rays and CT may fail to detect TGCT due to a limited ability to visualize the extent of lesion involvement.4,10
X-rays may not detect TGCT because they do not show details of the tumor and soft tissue involvement.4,10
While MRI can be highly suggestive for TGCT, pathological analysis is required for a definitive diagnosis.2,3
MRI INDICATORS OF TGCT
- Hemosiderin deposits are a defining characteristic of TGCT4,8
- Location is key to TGCT, and subtype diagnosis due to TGCT’s resemblance to other soft-tissue tumor types4,11
- N-TGCT typically appear as discrete, well-defined lesions, sometimes off-center or surrounding the joint4,11
- D-TGCT is usually characterized by a more wide-spread tissue mass, with distal joint effusion4,11
D-TGCT, diffuse-type TGCT; MRI, magnetic resonance imaging; N-TGCT, nodular-type TGCT; TGCT, tenosynovial giant cell tumor.
Pathology exams provide a definitive diagnosis of TGCT.4,7,11,12
Biopsy may be avoided if radiological assessment in an expert center is highly suggestive of TGCT and resection is planned. In such cases, a pathological diagnosis will be confirmed on the surgical specimen.4
Biopsy or surgical resection
Synovial fluid and/or tissue
from the affected joint may
be collected, as blood in
synovial fluid may indicate a
need for further tests1
Image source: Stacchiotti S, et al. Example of a diffuse-type TGCT (D-TGCT) consisting mostly of mononuclear cells without readily identified multinucleated giant cells, and numerous foamy histiocytes.4
Immunohistochemistry (IHC)
Giant cell-rich tumors (GCRT),
including TGCT, often exhibit
similar morphology. In some
cases, CSF1 IHC can support the
differential diagnosis of TGCT12
Image source: Stacchiotti S, et al. Immunohistochemistry in TGCT reveals expression of clusterin in the large mononuclear cells.4
PathologicalPATHOLOGICAL INDICATORS OF TGCT
TGCT lesions typically comprise a range of different cell-types, including:4,11
- Mononuclear cells4,11
- Osteoclastic giant cells4,11
- Foamy macrophages; macrophages make up the largest population of cells in TGCT tumors (35%)4,13
- Other types of inflammatory cells4,11
The diagnosis and management
of TGCT raises a number of
challenges2,4
Click here to explorethe role of surgery in
the management
of TGCT
Click here to understandthe challenges for patients
unable to have surgery
for TGCT