tenosynovial giant cell tumor

What are Tenosynovial Giant Cell Tumors?

Tenosynovial giant cell tumors (TGCTs) are a group of rare, typically non-life-threatening tumors that involve the synovium, bursae, and tendon sheath. These tumors can occur in any joint and are characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate [14].

Types of TGCTs

There are three kinds of tenosynovial giant cell tumors (TGCTs). One type grows in the tissue that lines the joints (synovium), the second kind grows in the area that cushions the joints and tendons (bursa), and the third type grows in the lining around the tendons (tendon sheath) [4].

Symptoms of TGCT

Common symptoms of TGCT include swelling, pain, stiffness, and reduced mobility in the affected joint. People who've had a tenosynovial giant cell tumor are more likely to develop rheumatoid arthritis or osteoarthritis in their affected joint [10].

Locations where TGCT can occur

Tenosynovial giant cell tumors can develop anywhere in your body, but the most common locations include:

• Fingers or thumbs
• Ankles or feet
• Knees
• Wrists
• Elbows

Terminology and Classification

In 2020, the WHO Soft Tissue and Bone Tumours Classification (5th ed.) introduced the term "tenosynovial giant cell tumour" as a unifying term for these tumors. They are also known as giant cell tumor of tendon sheath or pigmented villonodular tumor of the tendon sheath [12].

Clinical Spectrum and Age Range

Tenosynovial giant cell tumors (TGCTs) have a wide clinical spectrum and affect patients of all ages, with symptoms including pain, stiffness, swelling, and limitation in range of motion [13].

Common Signs and Symptoms of Tenosynovial Giant Cell Tumor

Tenosynovial giant cell tumors (TGCTs) are rare benign tumors that affect the joints, causing a range of symptoms. The most common signs and symptoms include:

• Pain: Pain is the most common symptom of TGCT, which can worsen with movement [4][5].
• Swelling: Swelling around the affected joint is another common symptom [3][6].
• Stiffness: Increasingly limited movement or stiffness in the joint near the tumor is also a common symptom [7][8].
• Reduced mobility: Reduced range of motion and joint instability are also symptoms associated with TGCTs [11].

In some cases, TGCT can cause more severe symptoms such as:

• Fractures: Fractures can occur due to weakening of the bone around the tumor [4].
• Arthritis damage: In rare cases, TGCT can cause arthritis damage and degeneration [12].

It's essential to note that the symptoms of TGCT can vary depending on the subtype and location of the tumor. A proper diagnosis by a medical professional is necessary for an accurate assessment.

References:

[1] - [13] are citations from the provided context, which describe various aspects of tenosynovial giant cell tumors.

Diagnostic Tests for Tenosynovial Giant Cell Tumor

Tenosynovial giant cell tumors (TGCTs) are rare, benign tumors that can be challenging to diagnose. A combination of clinical evaluation, imaging studies, and laboratory tests is often used to confirm the diagnosis.

• Imaging Studies: Magnetic Resonance Imaging (MRI) is considered the most reliable tool for distinguishing TGCT from other lesions [3]. MRI produces an intermediate to weak signal on T2-weighted images, which can help differentiate it from ganglion cysts. Other imaging modalities like X-rays and computed tomography (CT) scans may also be used to evaluate the extent of the tumor.
• Magnetic Resonance Imaging (MRI): MRI is essential for preoperative diagnosis and assessment of local tumor extent on localized giant cell tumor of tendon sheath [11]. It can help identify the location, size, and extent of the tumor, as well as any potential complications or associated conditions.
• X-rays: X-rays may be used to evaluate the bone involvement in TGCT. However, they are not typically used for diagnosis, as they may not provide sufficient detail about the soft tissue component of the tumor.
• Laboratory Tests: Laboratory tests such as blood work and biopsy may be performed to rule out other conditions or to confirm the diagnosis of TGCT.

Diagnostic Challenges

Diagnosing TGCT can be challenging due to its rarity and similarity in appearance to other lesions. A delay in diagnosis is common, with an average delay of 2.9 years reported in one study [14]. Therefore, it is essential for healthcare professionals to consider TGCT in the differential diagnosis of patients presenting with symptoms suggestive of a soft tissue tumor.

References

[3] The most reliable tool for distinguishing these lesions from TGCT is MRI, which produces an intermediate to weak signal on T2-weighted images whereas ganglion cysts produce a strong signal [3].

[11] MR imaging for preoperative diagnosis and assessment of local tumor extent on localized giant cell tumor of tendon sheath. Skeletal Radiol. 2003;32:633–638. doi: 10.1007/s00256-003-0705-8 [11].

[14] Tenosynovial giant cell tumor (TGCT) is a non-malignant tumor defined histologically as inclusions of “osteoclast-like” multinucleated giant cells, hemosiderin, and other cellular components. One study of 122 diffuse TGCT patients found that the average delay in diagnosis was 2.9 years [14].

Treatment Options for Tenosynovial Giant Cell Tumor

Tenosynovial giant cell tumor (TGCT) can be challenging to treat, and the approach often depends on the location and severity of the condition. While surgery is a common initial treatment, drug therapy has also emerged as a viable option.

Approved Drug Treatments

• Pexidartinib: In August 2019, the US Food and Drug Administration (FDA) approved pexidartinib for adult patients with symptomatic tenosynovial giant cell tumor (TGCT). This medication has been shown to reduce tumor size and improve quality of life in patients with TGCT [6][7].
• Vimseltinib: A recent study published in The Lancet found that treatment with vimseltinib leads to smaller tenosynovial giant cell tumors in 95% of patients, resulting in improved quality of life for these relatively young patients [15].

Other Treatment Options

While pexidartinib and vimseltinib are the only FDA-approved drugs specifically targeting TGCT, other treatments may be considered on a case-by-case basis. These can include:

• Anti-inflammatory medications: To manage symptoms such as pain and swelling
• Steroids: To reduce inflammation and alleviate symptoms
• Pain medication: To help control discomfort and pain

Recurrence Rates

Even after treatment, about 8% to 20% of people with localized tenosynovial giant cell tumors may get it again. The widespread type recurs more often, in about 33% to 50% of people [12].

References:

• Siegel M, Bode L, Südkamp N, et al. Treatment, recurrence rates and follow-up of tenosynovial giant cell tumor (TGCT) of the foot and ankle—a systematic review and meta-analysis.
• Palmerini E, Staals EL. Treatment updates on tenosynovial giant cell tumor Curr Opin Oncol. 2022 Jul 1;34(4):322-327. doi: 10.1097/CCO.0000000000000853.

Differential Diagnoses for Tenosynovial Giant Cell Tumor

Tenosynovial giant cell tumors (TGCTs) can be challenging to diagnose due to their similarities with other conditions. The following are some differential diagnoses that may mimic TGCTs:

• Fibromas: Rare cellular fibromas of tendon sheath may be indistinguishable from giant cell poor tenosynovial giant cell tumors, but have the same behavior [7].
• Synovial sarcoma: Tenosynovial giant cell tumors (TGCTs), synovial chondromatosis (SC), and synovial sarcoma (SS) exhibit similarities in clinical features and histochemical characteristics, making differential diagnosis challenging [9].
• Hemangioma: Hemangiomas can present as soft tissue density peri-articular masses, similar to TGCTs [6].
• Synovial chondromatosis: Synovial chondromatosis (SC) is a condition that involves the synovium and can be difficult to distinguish from TGCTs [9].
• Rheumatoid arthritis: The most likely differential diagnosis in some presentations of TGCTs is rheumatoid arthritis, which can cause tenosynovitis and joint erosion [14].

Key Points

• Differential diagnoses for TGCTs include fibromas, synovial sarcoma, hemangioma, synovial chondromatosis, and rheumatoid arthritis.
• These conditions can present with similar clinical features and histochemical characteristics, making diagnosis challenging.
• A thorough evaluation of the patient's history, physical examination, imaging studies, and histopathological findings is essential for accurate diagnosis.

References

[6] Keywords: tenosynovial giant cell tumor, diffuse type, magnetic resonance imaging, local recurrence, osteoarthritis, targeted therapy, treatment response. [7] Stensby JD, Evenski A, Layfield LJ. Limited usefulness of classic MR findings in the diagnosis of tenosynovial giant cell tumor. Skeletal Radiol. 2021;50:1585–1591. doi: 10.1007/s00256-020-03251-4 [9] Tenosynovial giant cell tumors are a group of neoplastic disorders that involve synovium-lined tendon sheaths, synovial joints, and adjacent soft tissue. [14] Diffuse-type tenosynovial giant cell tumor (D-TSGCT), previously known as pigmented villonodular synovitis, is a locally aggressive neoplasm that may arise from the synovium, bursa, or tendon sheath.