Clear cell sarcoma (CCS) is a type of  soft tissue sarcoma characterised by the proliferation of malignant cells typically initiating in the soft tissues that encompass and provide support to the tendons and muscles in your lower legs or feet. Often referred to as "melanoma of soft parts," Clear Cell Sarcoma is a rare and enigmatic soft tissue cancer that has perplexed researchers and oncologists alike. Clear cell sarcoma may often metastasize to the gastrointestinal tract, lungs or the lymphatic system.
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Early diagnosis and a multidisciplinary approach to treatment are vital for achieving the best possible outcomes. This condition is usually treated with surgery, chemotherapy and radiation therapy, but in some cases, clear cell sarcoma often recurs in the patient after an interval.

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Causes

The exact cause of Clear Cell Sarcoma remains uncertain, but it is thought to originate from genetic fusion of the neural crest cells, which are responsible for the development of nerves and other tissues. The process of tumour development usually initiates when two chromosomes separate. The genes EWSR1 and ATF1 are found in the fragmented portions of each chromosome. While the EWSR1 gene codes for a protein that appears to be involved in cell function, the ATF1 gene regulates cell proliferation. These chromosomes rejoin, but they now include genes that do not belong there, a condition referred to as Reciprocal translocation.

Once in their new chromosomal location, the relocated genes join forces with additional genes to form the fusion gene EWSR1/ATF1. Scientific studies cite that it is this fused gene, that leads to the development of clear cell sarcoma.

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Risk Factors

While CCS is rare, certain factors may increase the risk of developing this soft tissue cancer:

Age: Clear Cell Sarcoma primarily affects adolescents and young adults, though cases have been reported in older individuals.

Gender: It is slightly more common in females than in males.

Exposure to Radiation: Some cases have been associated with prior radiation therapy.

Genetic Factors: Rare genetic conditions, such as Li-Fraumeni syndrome, may increase susceptibility.

Symptoms

CCS can manifest differently in individuals depending on its location within the body. Some of the characteristic symptoms include:

  • Formation of a painless or painful lump or mass in the affected area
  • Limited mobility
  • Swelling
  • Redness
  • Inflammation around the tumour site
  • Pain or discomfort on application of pressure
  • Ulceration or bleeding
  • Night sweats
  • Fatigue
  • Unexplained weight loss.

Diagnosis And Treatment

If you detect any of the above-mentioned indications or symptoms, see a doctor as soon as possible to be identified and treated. The doctor normally performs a thorough physical examination to search for any lumps or tumours on the bones, softly pushes the region to see if it hurts, recognises the patient's prior medical history, and performs some diagnostics:

Imaging Tests: X-rays, CT scans, MRI scans, or PET scans can help visualize the tumour and its extent.

Biopsy: A tissue sample (biopsy) is collected from the tumour, typically via needle biopsy or surgical excision. A pathologist examines the sample to confirm the presence of CCS.

Genetic Testing: Genetic tests may be conducted to identify specific genetic alterations associated with CCS.

Treatment

Treatment for Clear Cell Sarcoma is often complex and individualized depending upon the patient’s age, potential, and the grade of the tumour. Some of the available treatment options include:

Surgery: Surgical removal of the tumour is typically the first step, aiming to achieve complete resection while preserving function.

Radiation Therapy: Radiation may be used before or after surgery to target remaining cancer cells.

Chemotherapy: In some cases, chemotherapy may be recommended, although CCS is less responsive to traditional chemotherapy.

Targeted Therapies: Emerging targeted therapies and immunotherapies are being explored in clinical trials to improve treatment outcomes.