Diffuse Type Tenosynovial Giant Cell Tumor

Diffuse Type Tenosynovial Giant Cell Tumor

Article
Bone, Muscle, & Joint
Diseases & Conditions
+1
Contributed byMaulik P. Purohit MD MPHAug 29, 2018

What are the other Names for this Condition? (Also known as/Synonyms)

  • Diffuse Nodular Tenosynovitis
  • Rare Diffuse Type of GCTTS
  • Tenosynovial Giant Cell Tumour, Diffuse Type

What is Diffuse Type Tenosynovial Giant Cell Tumor? (Definition/Background Information)

  • Giant cell tumors of tendon sheath (GCTTS) comprises of a group of tumors that develops in the synovial membrane of the joints, joint fluid sac (bursae), and tendon sheath. The tumor consists of many types of polygonal cells in a bed of collagen
  • They are classified according to their behavior and site of occurrence. Tumors may arise within the joint (intra-articular tumors) or outside the joint (extra-articular tumors). The growth pattern is either localized or diffuse and accordingly there are 2 subtypes of GCTTS:
    • Tenosynovial Giant Cell Tumor, Localized Type
    • Tenosynovial Giant Cell Tumor, Diffuse Type
  • Diffuse Type Tenosynovial Giant Cell Tumor (or Diffuse Type TSGCT) is a benign soft tissue tumor that typically affects the leg (particularly the knee joint). It is the rarer and more aggressive form of GCTTS. The tumor is generally seen in a younger population
  • The Diffuse Type Tenosynovial Giant Cell Tumor is slow-growing and painful. It is believed to develop due to genetic abnormalities in the presence of certain contributory factors. In some rare cases, malignant transformations are noted
  • Surgical excision of Diffuse Type of Tenosynovial Giant Cell Tumor with its entire removal, followed by radiation therapy, remains the standard treatment mode
  • The prognosis of the tumor is good following its removal. However, its rate of recurrence is high, and the tumor has a potential to cause severe bone destruction and severely comprise the joint involved

Who gets Diffuse Type Tenosynovial Giant Cell Tumor? (Age and Sex Distribution)

  • Diffuse Type of Tenosynovial Giant Cell Tumor usually affects young adults and children; diffuse type tumors are seen at a younger age than local type tumors
  • The tumors are predominantly seen in individuals below the age of 40 years
  • Children below 10 years and elderly individuals above 60 years are hardly affected
  • There is a slight female predominance
  • No ethnic or racial preference is seen

What are the Risk Factors for Diffuse Type Tenosynovial Giant Cell Tumor? (Predisposing Factors)

Currently, no clear risk factors have been established. Nevertheless, the following are thought to be associated with Diffuse Type Tenosynovial Giant Cell Tumor in some manner:

  • Degenerative disorders of the joints; particularly affecting the fingers
  • Rheumatoid arthritis
  • History of trauma is believed to be a risk factor according to various reports: In some studies, trauma was seen in as few as 5% of the cases; while in other studies, trauma was associated with the condition in up to 50% of the cases

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Diffuse Type Tenosynovial Giant Cell Tumor? (Etiology)

The cause of formation of Diffuse Type Tenosynovial Giant Cell Tumor is due to genetic mutations or genetic abnormalities.

  • Chromosomal translocation involving chromosome 1 and the CSF1 gene, is observed in many cases
  • This translocation is also known to involve the COL6A3 gene on chromosome 2
  • Many tumors show a fusion of an unidentified gene with CSF1 gene
  • X-chromosome inactivation is noted

Factors related to formation of Diffuse Type of TSGCT:

  • Initially, from animal model studies, researchers believed that past trauma played a contributory role and that Diffuse TSGCT occurred secondary to trauma, as an inflammatory reactive process
  • Now, researchers believe that the cause is a neoplastic (abnormal tissue growth) process, seen because of chromosomal alterations and changes in the number of cell chromosomes (aneuploidy), in some cases; the tumors are known to grow sporadically and independently

Some of the other theories proposed to explain Diffuse Type Tenosynovial Giant Cell Tumor development relate to:

  • Metabolic defects
  • Infections
  • Abnormal body immunity
  • Blood vessel anomalies

Both, diffuse type and localized type, have the same origin and cause mechanism, but different behavior and presentation.

What are the Signs and Symptoms of Diffuse Type Tenosynovial Giant Cell Tumor?

The signs and symptoms of Diffuse Type Tenosynovial Giant Cell Tumor may include the following:

  • The presentations are based on the location of the tumor
  • Slow-growing tumors are noted that may exhibit symptoms for many years
  • Pain, tenderness, and swollen joints may be observed
  • Most of the tumors are large (over 5 cm in size), firm or soft to touch
  • Motion is restricted in the affected joints
  • The Diffuse Type TSGCT are Infiltrative tumors; the tumors are known to spread around the joints
  • The fluid in these joints may contain blood (joint effusions containing blood); hemorrhage may occur
  • Tumors that are intra-articular mostly involve the knee joints (75% cases), hip joints (15% cases), followed by the ankle, elbow, and shoulder joints
  • Extremely rarely, the jaw (mandibles) and joints between the spinal cord bones (called facet joints), may be affected
  • Extra-articular involvement is mostly observed in the legs; the periarticular soft tissues are affected, usually around the knees (maximum number of cases), thigh, and foot
  • Some tumors in these regions may also affect only the muscles (intramuscular tumors) or mostly the soft tissues beneath the skin (subcutaneous tumors)
  • Bone erosion or skin involvement may be noted

How is Diffuse Type Tenosynovial Giant Cell Tumor Diagnosed?

A diagnosis of Diffuse Type Tenosynovial Giant Cell Tumor may involve:

  • Physical exam with evaluation of medical history
  • Imaging studies including plain X-ray and ultrasound scan of the affected hand or leg
  • CT or CAT scan with contrast of the affected region may show a mass. This radiological procedure creates detailed 3-dimensional images of structures inside the scanned region
  • MRI scan of the affected region: A magnetic field is used to create high-quality pictures of certain parts of the body, such as tissues, muscles, nerves, and bones. These high-quality pictures may reveal the presence of the tumor
  • A tissue biopsy of the tumor is performed and sent to a laboratory for a pathological examination. A pathologist examines the biopsy under a microscope. After putting together clinical findings, special studies on tissues (if needed) and with microscope findings, the pathologist arrives at a definitive diagnosis. Examination of the biopsy under a microscope by a pathologist is considered to be gold standard in arriving at a conclusive diagnosis
  • A differential diagnosis to eliminate other tumor types is considered, before arriving at a definitive diagnosis

Note:

  • A somewhat poorly-defined tumor mass may be seen on imaging scans; imaging studies can also reveal if the bone or joint is affected
  • Some tumors may be cystic in nature, and 10% of the tumors have blood-filled spaces (observed under the microscope by a pathologist)
  • On examination, the tumors may have features of a sarcoma and can be misdiagnosed
  • Extra-articular Diffuse Type of Tenosynovial Giant Cell Tumor do not show pigmented villonodular synovitis (PVNS) pattern. PVNS tumors have multi-nodular appearance

It may be difficult to distinguish between localized and diffuse tumor forms in the knee joint. Hence, a careful analysis of radiological studies and pathology biopsy results are necessary for an accurate diagnosis.

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Diffuse Type Tenosynovial Giant Cell Tumor?

Complications of Diffuse Type Tenosynovial Giant Cell Tumor may include:

  • Complications are dependent on the site and size of the tumor. The tumors can be locally aggressive and destructive. Many times, both sides of the joint are affected
  • The tumors may also be associated with arthritis (degenerative joint disease)
  • The mobility of the joints may be constrained leading to difficulty in walking, folding hands, etc., thereby affecting the quality of life
  • Often, multiple surgeries may be required to eliminate the tumor
  • Damage of the fingers, knee, elbow, or even other organs, vital nerves, and blood vessels, during surgery
  • The tumor recurrence rate, following its surgical excision and removal is high. It varies from 33-50% for tumors outside or around the joint, to 18-46% for tumors within the joints
  • When tumors recur, a possibility of a malign tenosynovial giant cell tumor should be ruled out
  • Very infrequently, some tumors exhibit signs of malignancy, these tumors are called malignant tenovial GCT
  • Studies have shown that tumors that appear benign when examined by a pathologist, may behave in a malignant fashion. In some instances, these benign-appearing tumors are known to have metastasized to the lung and lymph nodes. Hence, the treatment should include careful and periodic follow-ups

How is Diffuse Type Tenosynovial Giant Cell Tumor Treated?

The treatment measures for Diffuse Type Tenosynovial Giant Cell Tumor include the following:

  • Surgical excision and removal of the entire lesion, followed by radiation therapy, remains the standard treatment mode. If the tumor is not fully removed, it may recur
  • When it is unsafe to surgically remove the lesion due to possibility of severe damage to the joint or weak health condition of the individual, non-invasive procedures (such as radiotherapy) may be adopted
  • Malignant tumors may be additionally treated with chemotherapy and radiation therapy
  • In some cases, skin grafting and tendon reconstruction may be required
  • Post-operative care is important: A minimum activity level is ensured, until the surgical wound heals
  • Follow-up care with regular screening and check-ups are important

How can Diffuse Type Tenosynovial Giant Cell Tumor be Prevented?

  • Current medical research has not established a method of preventing Diffuse Type Tenosynovial Giant Cell Tumor
  • Regular medical screening at periodic intervals with blood tests, scans, and physical examinations, are mandatory for those who have already endured the tumor, due to possibility of its recurrence

What is the Prognosis of Diffuse Type Tenosynovial Giant Cell Tumor? (Outcomes/Resolutions)

  • The prognosis of Diffuse Type Tenosynovial Giant Cell Tumor is good with surgical intervention and complete removal of the tumor, in a majority of the cases
  • Not all tumors that are infiltrative and aggressive, are malignant and metastasize to various regions. Some tumors behave in a malignant fashion and can spread/metastasize to other body parts
  • However, Diffuse Type TSGCT is known to recur frequently, and as multiple tumors. In such cases, the joint function can be severely affected. The recurrence is directly related to surgery and surgical margins, and so, a wide excision is often necessary
  • In some cases, bone or joint destruction is noted following tumor reappearance, and more than one surgery is required to completely remove the tumor

Tumors that are malignant, are reported to be more aggressive and can metastasize to the lungs, which may necessitate extensive treatment measures. In such cases, the prognosis of Diffuse Type Tenosynovial Giant Cell Tumor may depend upon several factors including:

  • Stage of tumor: With lower-stage tumors, when the tumor is confined to site of origin, the prognosis is usually excellent with appropriate therapy. In higher-stage tumors, such as tumors with metastasis, the prognosis is poor
  • The size of the tumor: Individuals with small-sized tumors fare better than those with large-sized tumors
  • Overall health of the individual: Individuals with overall excellent health have better prognosis compared with those with poor health
  • Age of the individual: Older individuals generally have poorer prognosis than younger individuals
  • Individuals with bulky disease have a poorer prognosis
  • Involvement of the lymph node can adversely affect the prognosis
  • Involvement of vital organs may complicate the condition
  • The surgical respectability of the tumor (meaning, if the tumor can be removed completely)
  • Whether the tumor is occurring for the first time, or is a recurrent tumor. Recurring tumors have worse prognosis compared to tumors that do not recur
  • Response to treatment: Tumors that respond to treatment have better prognosis compared to tumors that do not respond to treatment
  • Progression of the condition makes the outcome worse

Additional and Relevant Useful Information Diffuse Type Tenosynovial Giant Cell Tumor:

The synovial fluid is the lubricating fluid found in the joints (like knee, elbow), and synovium refers to the thin membrane that lines or covers the joint space.

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Maulik P. Purohit MD MPH picture
Approved by

Maulik P. Purohit MD MPH

Assistant Medical Director, Medical Editorial Board, DoveMed Team

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