Gaucher Disease

Definition/Description

Giant cell tumors of bone are benign clusters of multinucleated cells that commonly arise in the epiphysis and sometimes in the metaphysis of long bones. These tumors are named for their large cell appearance when viewed under a microscope. [1] Giant cell tumor is a discrete and locally aggressive abnormal growths or tumors that can spread to other parts of the body. Metastatic forms of giant cell tumors are called malignant sarcomas, although this form of giant cell tumors is very rare. [2] Giant cell tumor of bone is one of the most challenging benign bone tumors Local recurrence of tumor due to substantial bone damage, lung metastasis, metastasis to lymph nodes and malignant transformation[3]

[Photo courtesy of Humpath. Available at http://www.humpath.com/spip.php?article2994&id_document=26217#documents_portfolio]

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Prevalence

Giant cell tumor of bone is rare, occurring in about one in a million people each year. [5] In the United States, 5% of primary bone tumors and 21% of benign bone tumors present as giant cell tumors. [3] A significantly higher incidence was observed in China Compared with Western Caucasians, giant cell tumors account for 20% of the affected population. [2] Giant cell tumors are most commonly seen in skeletally mature patients between the ages of 20 and 55, with highest incidence in the third decade Life. [2] Women are more likely than men to develop giant cell tumors in a ratio of 1.3-1.5:1. [3]

These tumors most commonly involve the epiphysis of the long bones and most commonly the femur, tibia, and distal radius. [1]. The most common sites of occurrence are around the knee joint in approximately 60% of cases; distal radius in approximately 10-12% of cases; The sacrum is even rarer, but remains the third most commonly involved site. [6] While lung metastases do occur, they are very rare, resulting in tumor spread to the lungs in only about 3% of cases. When giant cells migrate to the lungs, they appear in clusters located in the lungs. Giant cell tumors metastasize slowly and usually do not appear for 3-5 years after a patient is diagnosed with a primary bone tumor, but such metastases may remain undetected for up to 10 years or more. [3]

Characteristics/Clinical Presentation

Every patient experiences the signs and symptoms of giant cell tumors slightly differently, and many symptoms may depend on the location of the tumor. The following are the most common signs and symptoms a patient may experience:

• Progressive pain in the tumor area [1][5]
• Pain worsens with activity and lessens with rest [5]
• Decreased joint range of motion[1]
• Tender hard mass may be palpated[1]
• Muscle atrophy[1]
• Elevated overlying skin temperature [1]
• A lump or swollen area (which may or may not be painful) [5]

[Photo courtesy of Thachers Orthopedic Medical Imaging Photos. Available at http://www.thachers.org/orthopedics.htm]

Pathological fractures may occur if significant bone destruction occurs at the site of the tumor and the cortical layer of the bone is damaged. If the tumor is in a weight-bearing bone, the patient may experience significant pain with weight bearing. [2] When the sacrum is involved, patients may present with Localized pain in the lower back and sacrum that may radiate to one or both legs. Swelling may also be present at the location of the tumor. Patients may also say they are experiencing abdominal discomfort and may have neurological problems such as bowel and bladder Sexual dysfunction and numbness/weakness of lower extremities. [6]

Associated Co-morbidities

No comorbidities associated with giant cell tumors were found.

Medications

Bisphosphonates are drugs that are not used to treat giant cell tumors per se, but rather to inhibit the development of osteolysis of the bone that appears to be at the site of giant cell tumors, they act by inhibiting bone resorption by osteoclasts effect. Studies have shown that bisphosphonates may It is beneficial to control the disease progression of giant cell tumor of the bone, and these drugs have been found to directly inhibit giant cell tumor. [7]

Diagnostic Tests/Lab Tests/Lab Values

Giant cell tumors are usually diagnosed by x-rays, confirmed by histologic evaluation, and findings often have giant cell tumor-specific features. [2] Below is a list of diagnostic tests that can be used to help identify and differentiate tumor types That exists.

Tumor biopsy: A sample of the tumor is removed and examined under a microscope, allowing doctors to determine how aggressive the tumor is. The tumor’s cellular structure is then examined to rule out other malignancies that may resemble giant cell tumors. [1]

X-ray: X-rays are diagnostic tests used to project radiographic images of bone and other organ tissue onto film. Giant cell tumors appear as translucent lesions within the bone, usually near the joint line. The skeletal parts involved are Surrounded by slender white bone; the bone in the tumor area occasionally extends outward. Chest x-rays should be performed at diagnosis of the tumor and randomly during follow-up to look for lung metastases. [1][5]

Giant Cell Tumor of the Femur: Courtesy of Bellarmine University – Elaine Lonnemann

Magnetic resonance imaging: MRI is a diagnostic test that uses powerful magnetic fields to produce detailed images of the internal structures in the body. This imaging procedure will allow for a more in-depth evaluation of the affected bone. [1][5]

Computed Tomography: A CT or CAT scan is a type of diagnostic imaging that uses a combination of computer processing and X-rays to produce cross-sectional images of the body. They can also produce 3-dimensional images of the body’s internal structures. CT scans are more detailed than X-rays And can show imaging of skeletal muscle fat and organs. CT scans are often done on the lungs of patients with giant cell tumors to check for signs of metastases in the lungs. [1]

Bone scan: A bone scan is used to help diagnose whether a tumor is present and has spread to other parts of the body. A bone scan will show a “hot spot” where the tumor is located in the bone. [5]

Complete blood count: Measures the size and maturity of the different blood cells in a precise amount of blood. [1]

Blood tests: The blood tests performed include blood chemistry[1]

Etiology/Causes

Giant cell tumors are thought to occur spontaneously with an unknown etiology. Although “tumor cells have been reported to produce chemoattractants that can attract osteoclasts and osteoclast precursors.”[2] They have not been shown to be related to factors such as the traumatic environment condition or diet, although in rare cases they may be related to hyperparathyroidism. [5]

Systemic Involvement

Musculoskeletal

• joint pain, possibly reduced range of motion
• Bone degeneration (pathological fracture)
• Muscle atrophy

Integumentary

• Increased upper skin temperature
• Swelling at location of the tumor 

Nervous system (involves sacrum)

• Bowel and bladder dysfunction
• Sexual dysfunction
• Numbness/weakness in lower extremity

Cardiopulmonary

• If metastases occur, the lungs may be involved

[1][6]

[Photo courtesy of the Department of Physical Therapy, Leonard M. Miller School of Medicine, University of Miami. Available at http://pt.med.miami.edu/x261.xml]

Medical management (current best evidence

Surgical resection has proven to be the most successful treatment option for giant cell tumors. The most common form of surgery is called curettage, in which the tumor is dug out of the bone. After executing this method, there is an empty space in the bone that is filled Using bone grafts from other parts of the body or from cadavers. This treatment has a high recurrence rate, with up to 45 percent of tumors returning to the same location when curettage and bone grafting alone are performed. Bone cement is therefore often used Rather than bone grafting, this approach has been shown to have lower rates of tumor recovery. “Using high-velocity burrs or augmenting curettage with agents such as liquid nitrogen hydrogen peroxide or phenol followed by cement placement reduces recurrence rates from 10% to 29%. “If the tumor wreaks havoc or reappears in the bone, more tumor resection and all reconstruction work is usually required. [5]

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Radiation therapy may be a treatment option if the tumor is not accessible or can only be partially removed, but it is by no means the preferred primary treatment. The use of radiation therapy is controversial and used only in patients who are not candidates for surgery because of its high recurrence rate [2][3] Treatment of giant cell tumors may require surgical intervention with one or more of the following:[1]

Curettage: The most common surgical treatment, the tumor is scooped out of the bone using a device called a curette, which has a scoop or loop at the end. In addition to a curette, another tool called a burr is sometimes used to help remove the tumor. for this surgical intervention The doctor cuts into the bone to create an opening in which the entire tumor can be revealed, and then removes it from the bone.

Cryotherapy: In addition to curettage treatment, cryotherapy may also be used. After the tumor is removed, liquid nitrogen is placed in the space left by the tumor to freeze the area. Freeze and thaw cycles repeated 1 to 2 times to help destroy any tumor cells that may still be present stay and stop them from growing. This intervention increases the risks associated with it and can lead to fractures or nerve damage, so it is not usually considered a primary treatment option.

Bone graft or cement filling: The hole left by the tumor is usually filled with bone from another part of the body (autograft) or bone cement from a donor bone tissue (allograft), using the same material used in total joint replacement .

En bloc resection: This is a more aggressive tumor removal procedure in which the bone containing the tumor is surgically removed. Internal fixation with needles is usually required to provide a framework for stabilizing the bone. If a considerable amount of bone was removed, the donor bone or metal substitutes for rebuilding bone tissue.

After treatment for giant cell tumors, patients should have several follow-up visits with their doctors for a physical exam and x-rays of the tumor site and lungs to make sure it has not returned or metastasized for at least 5 years. Although it’s not uncommon These tumors often reappear, and treatment of giant cell tumors has been found to be successful with an excellent durable prognosis. [3][1]

Physiotherapy management (best current evidence)

Physiotherapy management will play an important role in the overall health of the patient, but it has no direct impact on the treatment of giant cell tumor itself. Physiotherapists may be the first to connect the signs and symptoms a patient is experiencing with what happened in the past than musculoskeletal origin; by identifying red flags that may be associated with giant cell tumors, PTs are able to refer patients so that they may undergo appropriate diagnostic tests to diagnose the tumor. This is important so that tumors can be detected early and appropriate measures can be taken Therapeutic measures can be taken to remove the tumor.

Physiotherapy will also be incorporated into the patient’s regimen to manage any dysfunction or dysfunction secondary to tumor complications. The goal of physical therapy is to improve the patient’s quality of life and allow independent lifestyle. Some of the main treatment areas that physical therapy will focus on are reducing pain, improving mobility, and restoring previous levels of function. This will begin by educating patients about their condition so they know what they should do and Nothing should be done about their condition and emphasizes the importance of staying active. Physiotherapy will also focus on improving cardiovascular fitness and endurance to prevent fatigue and exhaustion from daily activities. It is important to focus on being flexible by Stretch and range-of-motion activities to allow for good mobility reduce joint stiffness and relieve pain. It should also be combined with light strengthening exercises, coordination exercises, and balance activities to allow patients to complete daily tasks in a safe and secure manner. efficient way. [12]

Differential Diagnosis

Signs/symptoms of giant cell tumors are usually mild in nature and often resemble those of musculoskeletal origin. Sacral tumors are often not diagnosed early in their developmental stages because they share similar features to low back pain or sciatica. physical therapists are not uncommon Receive a doctor’s referral until an accurate diagnosis is established. Therefore, it is important for physiotherapists to take a thorough patient history and to be aware of any red flags that may arise during the assessment that would make you suspect something is not the case It is musculoskeletal in nature. [6]

Other bone tumors that must be excluded on histologic analysis are:[3]

• Brown tumors of hyperparathyroidism
• Aneurysmal bone cysts
• Chondroblastoma
• Osteoblastoma
• Osteosarcoma

Case Reports/ Case Studies

Giant cell tumor of the sacrum and spine: a case series of 23 and review of the literature [13]

Giant cell tumor of bone with lung metastases [14]

Giant cell tumor of a rare location: report of two cases of finger phalanges and review of the literature [15]

Resources

American Academy of Orthopedic Surgeons: http://orthoinfo.aaos.org/topic.cfm?topic=A00080

Medicine: http://emedicine.medscape.com/article/1255364-overview

Boston Children’s Hospital: http://www.childrenshospital.org/az/Site960/mainpageS960P0.html

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