GeneHealth - Your precision medicine

Clear Cell Sarcoma

Disease Details

Family Health Simplified

Buy Membership

Description: Clear cell sarcoma is a rare malignant tumor that typically arises in tendons and aponeuroses, often affecting young adults and presenting characteristics of both melanoma and soft tissue sarcoma.
Type: Clear cell sarcoma is a type of soft tissue sarcoma. It typically arises from tendons and aponeuroses and often involves abnormal translocations between chromosomes, specifically t(12;22)(q13;q12). It is not typically inherited in a traditional Mendelian fashion but is rather associated with these specific acquired genetic mutations in affected cells.
Signs And Symptoms: It presents as a slow growing mass that especially affects tendons and aponeuroses and it is deeply situated. Patients often perceive it as a lump or hard mass. It causes either pain or tenderness but only until it becomes large enough. This kind of tumor is commonly found in the extremities especially around the knee, feet and ankle. Patients diagnosed with clear cell sarcoma are usually between the ages of 20 and 40.
Prognosis: When the tumor is large and there is presence of necrosis and local recurrence, the prognosis is poor. Presence of metastasis occurs in more than 50% cases and the common places of its occurrence are the bone, lymph node and lungs. Five-year survival rates, which are reported to be between 50 and 65%, can be misleading because the disease is prone to late metastasis or recurrence. Ten and twenty-year survival rates are 33% and 10%, respectively.
Onset: Clear cell sarcoma typically presents in young adults, often between the ages of 20 and 40. It usually manifests as a slow-growing mass in the tendons or aponeuroses of the extremities, especially the lower limbs. Early stages may not produce symptoms other than the palpable mass, but as it progresses, pain and functional impairments may develop.
Prevalence: The prevalence of clear cell sarcoma is extremely low. It is a rare type of cancer primarily affecting young adults, often arising in tendons and aponeuroses. Exact prevalence data is not well-defined due to its rarity.
Epidemiology: Clear cell sarcoma is a rare and malignant type of soft tissue sarcoma. It predominantly affects young adults and adolescents, with a slight female predominance. The incidence is very low, accounting for less than 1% of all soft tissue sarcomas. It typically arises in the deep soft tissues of the extremities, particularly in the lower limbs, and it is known for its association with tendons and aponeuroses. Due to its rarity, detailed epidemiological data are limited.
Intractability: Clear cell sarcoma is considered a challenging and often intractable form of cancer due to its aggressive nature and tendency to metastasize. Treatment typically involves surgical resection, but achieving complete remission can be difficult. The disease’s recurrence rates are high, and it is relatively resistant to conventional chemotherapy and radiation therapy. Advanced cases may require targeting emerging molecular pathways, but overall, the prognosis remains guarded.
Disease Severity: Clear cell sarcoma is a rare and aggressive type of soft tissue sarcoma that typically affects young adults. It commonly occurs in the tendons or aponeuroses (flat sheets of connective tissue) and often involves the limbs. The prognosis can be poor due to its propensity for local recurrence and metastasis, particularly to lymph nodes and lungs. Early detection and aggressive treatment are crucial for improving outcomes.
Healthcare Professionals: Disease Ontology ID - DOID:4233
Pathophysiology: Clear cell sarcoma is a rare type of cancer that generally arises in the tendons of the limbs. The pathophysiology of clear cell sarcoma involves a specific chromosomal translocation, typically t(12;22)(q13;q12), which results in the fusion of the EWSR1 gene on chromosome 22 with the ATF1 gene on chromosome 12. This genetic alteration leads to the production of an abnormal fusion protein that drives the oncogenic process, promoting uncontrolled cell growth and tumor development. The tumor cells often contain melanin and can be mistaken for malignant melanoma due to their similar appearance and behavior.
Carrier Status: Clear cell sarcoma is not typically associated with a hereditary component, so there is no carrier status.
Mechanism: Clear cell sarcoma is a rare malignant tumor that typically arises in tendons and aponeuroses. It is often associated with younger adults.

Mechanism and Molecular Mechanisms:
1. **Translocation**: The hallmark of clear cell sarcoma is a specific chromosomal translocation t(12;22)(q13;q12), which results in the fusion of the EWSR1 gene on chromosome 22 with the ATF1 gene on chromosome 12. This fusion gene acts as an aberrant transcription factor that promotes tumorigenesis.

2. **EWSR1-ATF1 Fusion Protein**: The EWSR1-ATF1 fusion protein alters normal cellular transcription, leading to deregulated expression of downstream target genes. This has a wide variety of effects on cell proliferation, differentiation, and survival, contributing to the aggressive nature of the tumor.

3. **Apoptosis Inhibition and Proliferation**: The EWSR1-ATF1 fusion protein interferes with normal apoptotic pathways and promotes unchecked cellular proliferation. This imbalance facilitates the growth and survival of malignant cells.

4. **Signaling Pathways**: Several downstream pathways are implicated in the pathogenesis, including the activation of the MAPK/ERK pathway, which further promotes cell division and survival.

Understanding these mechanisms helps in diagnosing clear cell sarcoma and developing potential therapeutic strategies targeting the molecular alterations specific to this malignancy.
Treatment: Treatment depends upon the site and the extent of the disease. Clear cell sarcoma is usually treated with surgery in the first place in order to remove the tumor. The surgical procedure is then followed by radiation and sometimes chemotherapy. Few cases of clear cell sarcoma respond to chemotherapy. Several types of targeted therapy that may be of benefit to clear cell sarcoma people are currently under investigation.
Compassionate Use Treatment: Clear cell sarcoma is a rare and aggressive type of cancer often associated with tendons and aponeuroses. Given its rarity, there is limited evidence for standardized treatment, making compassionate use, off-label, and experimental therapies significant considerations.

**Compassionate Use Treatment:**
Compassionate use, also known as expanded access, may be considered for patients who have exhausted standard therapies. This typically involves investigational drugs that are still in clinical trials but show promise. Patients need to work with their healthcare providers to apply for access through regulatory pathways established by agencies such as the FDA in the United States.

**Off-Label Treatments:**
1. **Tyrosine Kinase Inhibitors:** Drugs like imatinib, sunitinib, and pazopanib, originally approved for other cancers, have been used off-label due to their potential action on similar molecular targets.
2. **Chemotherapy:** Although not highly effective, drugs such as ifosfamide and doxorubicin might be used off-label.
3. **Immune Checkpoint Inhibitors:** Given the success in other cancers, there is ongoing interest in using drugs like nivolumab and pembrolizumab off-label.

**Experimental Treatments:**
1. **Clinical Trials:** Participation in clinical trials provides access to new therapies under investigation. Trials may include new drug candidates, combination therapies, or unique delivery methods.
2. **Gene Therapy and Targeted Therapies:** Research is ongoing on treatments targeting specific genetic mutations associated with clear cell sarcoma, such as the EWSR1-ATF1 fusion gene.
3. **Immunotherapy:** Beyond checkpoint inhibitors, experimental immunotherapy approaches may include adoptive T-cell therapy and cancer vaccines.

Patients should consult with a multidisciplinary team of oncologists, participate in clinical trials when possible, and consider genetic counseling and testing to identify potential targeted therapies.
Lifestyle Recommendations: Clear cell sarcoma is a rare type of cancer that typically occurs in the soft tissues. While there are no specific lifestyle recommendations to prevent or manage clear cell sarcoma directly, general healthy lifestyle choices can support overall well-being and may aid in treatment and recovery. These include:

1. **Balanced Diet**: Consume a diet rich in fruits, vegetables, whole grains, and lean proteins.
2. **Regular Exercise**: Maintain a consistent exercise routine suitable for your condition and fitness level, as advised by your healthcare provider.
3. **Avoiding Tobacco and Excessive Alcohol**: Refrain from smoking and limit alcohol consumption to reduce the risk of complications.
4. **Stress Management**: Practice stress-reducing techniques such as yoga, meditation, or breathing exercises.
5. **Regular Medical Check-ups**: Attend all scheduled appointments with your oncologist or healthcare provider for monitoring and early intervention if needed.

Always consult with your healthcare team for personalized advice tailored to your specific condition and treatment plan.
Medication: Clear cell sarcoma is a rare and aggressive type of cancer that is often treatment-resistant. The primary treatment options focus on surgery to remove the tumor, often combined with radiation therapy to reduce the risk of recurrence. Chemotherapy is generally less effective for clear cell sarcoma, though certain drugs may be used in specific cases. Medications such as targeted therapies and novel agents are being investigated in clinical trials, but as of now, no standard medication treatment has been universally accepted for clear cell sarcoma.
Repurposable Drugs: For clear cell sarcoma, repurposable drugs such as tyrosine kinase inhibitors (e.g., Imatinib) and immune checkpoint inhibitors (e.g., Pembrolizumab) have been explored in clinical settings. However, more extensive clinical trials are needed to confirm efficacy.
Metabolites: Clear cell sarcoma is a rare type of cancer that often occurs in tendons and aponeuroses. There is limited specific information on metabolites uniquely associated with clear cell sarcoma. Key focus areas typically involve genetic abnormalities, such as the EWSR1-ATF1 fusion gene, rather than specific metabolites. Since "nan" might refer to "not a number" or represent missing information, it's important to consult current medical literature or a healthcare professional for the most detailed and updated data on metabolites related to this disease.
Nutraceuticals: Clear cell sarcoma, a rare and aggressive form of cancer often found in tendons and aponeuroses, currently has no established nutraceutical treatments. Nutraceuticals, which are food products providing health benefits, have not been scientifically validated as effective for this specific condition. Treatment typically involves surgical removal, and may include radiation therapy or chemotherapy as needed. Always consult with a healthcare provider for personalized medical advice.
Peptides: For clear cell sarcoma, peptide-based therapies are an area of ongoing research. These therapies involve using small chains of amino acids (peptides) to target specific proteins associated with cancer cells. Studies are exploring peptides that can interfere with pathways crucial for cancer cell survival and proliferation, such as the kinase signaling pathways. Research in this area aims to develop targeted treatments that could offer a more precise approach compared to traditional therapies.

"Nan" can refer to nanoparticles, which are also a promising area of research for clear cell sarcoma. Nanoparticles can be used to deliver drugs directly to cancer cells, improving the efficacy and reducing the side effects of chemotherapy. By loading anti-cancer drugs into nanoparticles, researchers aim to target the tumor site more effectively and reduce the impact on healthy tissues.

These approaches are complex and still under investigation, but they hold potential for developing new treatments for clear cell sarcoma.