Synovial sarcoma:symptoms,cure rate,cause and diagnosis

Synovial sarcoma is a rare type of soft tissue tumor that typically occurs near joints or in the limbs, although it can occur in other locations as well. It is more common in adolescents and young adults, and it does not show any preference for gender or race. The symptoms of synovial sarcoma can be varied and depend on the size, location, and how long the tumor has been present.

synovial sarcoma symptoms

synovial sarcoma symptoms:

  1. Painless mass or lump: One of the primary symptoms is the presence of a painless mass or lump under the skin. This lump can be felt and is usually located near a joint, such as the knee, ankle, or wrist.
  2. Gradual growth: The tumor often grows slowly over time, and its size may fluctuate, especially if it is near a joint and subject to movement and pressure changes.
  3. Pain: While initially painless, the tumor may become painful as it grows and presses on nerves and surrounding tissues.
  4. Limited range of motion: If the tumor is near a joint, it can impede the normal movement of the joint, leading to a limited range of motion.
  5. Swelling: The area around the tumor may become swollen or inflamed.
  6. Fatigue and weight loss: As with many cancers, synovial sarcoma can lead to systemic symptoms such as fatigue and unexplained weight loss, especially in advanced stages.
  7. Bruising and bleeding: The tumor may cause bruising or bleeding, particularly if it is near the surface of the skin.
  8. Warmth and tenderness: The area over the tumor may feel warmer than the surrounding skin and may be tender to the touch.

These symptoms can also be indicative of other conditions, so a proper diagnosis is essential. If synovial sarcoma is suspected, a biopsy is typically performed to confirm the diagnosis. Treatment options may include surgery, radiation therapy, chemotherapy, or a combination of these, depending on the stage and location of the tumor. Early detection and treatment can improve outcomes.

Cure rate

The cure rate for synovial sarcoma, like many cancers, depends on several factors, including the stage of the tumor at the time of diagnosis, the size and location of the tumor, and the patient’s age and overall health. Synovial sarcoma is a malignant tumor, and despite its name, it is not related to the synovial membrane or joint lining.

When synovial sarcoma is caught early and has not spread to other parts of the body, the prognosis is generally better. The five-year survival rate for localized synovial sarcoma (Stage I) is reported to be between 70% and 80%. However, if the tumor has already spread to lymph nodes or distant organs at the time of diagnosis (Stage II, III, or IV), the five-year survival rate can decrease significantly, sometimes to less than 50%.

Cause of synovial sarcoma

The exact cause of synovial sarcoma is not fully understood. Like many cancers, it is thought to result from a combination of genetic and environmental factors. However, synovial sarcoma is unique in that it is characterized by a specific genetic translocation that is found in the tumor cells of nearly all cases.

Cause of synovial sarcoma
Cause of synovial sarcoma

This genetic abnormality involves a fusion of two genes: the SS18 gene and the SSX gene (most commonly SSX1 or SSX2). The fusion of these genes leads to the production of an abnormal protein that affects the normal regulation of genes involved in cell growth and division. This disruption in normal cellular processes can lead to uncontrolled cell growth and the formation of a tumor.Researchers at MSKCC have conducted in-depth studies on the molecular mechanisms and treatments of synovial sarcoma. They discovered that the SYT-SSX gene fusion is a key driving factor in the disease and have explored targeted treatment methods for this fusion.

Synovial sarcoma is not inherited; the genetic mutation occurs somatically during a person’s lifetime, meaning it is not passed down from parents to their offspring. The mutation is thought to occur in cells that are involved in the development of the limbs or near joints, which is why synovial sarcoma often arises in these locations.

While the presence of the SS18-SSX fusion gene is a defining characteristic of synovial sarcoma, the factors that cause this fusion to occur are not well-defined. Research is ongoing to understand the underlying mechanisms that lead to the development of synovial sarcoma and to identify other genetic or environmental factors that may contribute to its formation.

Synovial sarcoma diagnosis

Synovial sarcoma is diagnosed through a combination of clinical evaluation, imaging tests, and laboratory tests, typically confirmed by a biopsy. Here’s an overview of the diagnostic process:

Synovial sarcoma diagnosis
Synovial sarcoma diagnosis
  1. Clinical Evaluation: The process often begins with a thorough clinical evaluation, including a detailed medical history and a physical examination of the affected area. The doctor will look for signs and symptoms such as a mass or lump near a joint, limited range of motion, and pain.
  2. Imaging Tests: Imaging tests are used to visualize the tumor and determine its size, location, and extent. Common imaging techniques include:
    • X-rays: Basic imaging that can show abnormalities in the bones and some soft tissues.
    • MRI (Magnetic Resonance Imaging): Provides detailed images of soft tissues and can help determine the tumor’s relationship to nearby structures.
    • CT (Computed Tomography) Scan: Offers cross-sectional images of the area and can help evaluate the extent of the tumor and its effect on surrounding structures.
    • Ultrasound: Can be used to guide a biopsy procedure.
    • PET (Positron Emission Tomography) Scan: Sometimes used to detect metastases, as synovial sarcoma can spread to other parts of the body.
  3. Biopsy: A biopsy is the removal of a sample of tissue for examination under a microscope. It is the most definitive method for diagnosing synovial sarcoma. The biopsy can be done using different methods, such as:
    • Core Needle Biopsy: A long, thin needle is used to extract tissue from the tumor.
    • Incisional Biopsy: A small piece of the tumor is surgically removed.
    • Excisional Biopsy: The entire tumor is removed, if it is small and accessible.
  4. Histopathology: The tissue sample from the biopsy is sent to a pathologist who examines it under a microscope to determine if it is cancerous and, if so, the type of cancer. Synovial sarcoma has characteristic microscopic features, including the presence of a specific genetic fusion (SS18-SSX) that can be detected with specialized tests such as fluorescence in situ hybridization (FISH) or reverse transcription-polymerase chain reaction (RT-PCR).
  5. Staging: If synovial sarcoma is diagnosed, the tumor will be staged to determine its extent and whether it has spread to other parts of the body. Staging helps guide treatment decisions and prognosis. Staging may involve additional imaging tests to look for distant metastases.

Once the diagnosis is confirmed and staging is complete, the treatment team can develop an individualized treatment plan based on the tumor’s characteristics and the patient’s overall health.

The optimal treatment plan for synovial sarcoma depends on several factors, including the tumor’s size, location, depth, stage, and whether it has metastasized. Treatment is often multimodal, involving a combination of surgery, radiation therapy, and chemotherapy.

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