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Epithelioid Sarcoma

Disease Details

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Description: Epithelioid sarcoma is a rare, slow-growing soft tissue cancer that typically affects young adults and often manifests in the extremities.
Type: Epithelioid sarcoma is a rare type of soft tissue cancer that typically starts in the extremities, such as the hands or forearms, but can occur in other areas.

Type of genetic transmission: Epithelioid sarcoma is generally not considered to be inherited. Most cases occur sporadically without a clear genetic transmission pattern. The exact cause is unknown, but it may involve genetic mutations that occur during a person's lifetime rather than an inherited mutation.
Signs And Symptoms: Epithelioid sarcoma is a slow-growing and relatively painless tumor, often resulting in a lengthy period of time between presentation and diagnosis. Due to the difficulty of discerning this cancer as different from more common cancers, such as cancers of the skin (squamous cell carcinoma or basal cell carcinoma), it is often misdiagnosed, mistaken as a persistent wart or cyst. It most commonly presents itself in the distal limbs (fingers, hands, forearms, or feet) as a small, soft mass or a cluster of nodules. It is most often described as a firm-to-hard palpable mass, either in the deep soft tissue or in the dermis. These cancers can form a crater or ulcer, leading to a mistaken diagnosis of a poorly healing traumatic wound or wart. About 13% of patients present with multifocal tumors, and about 13% of patients present with metastatic disease.
Prognosis: The 5-year survival rate for epithelioid sarcoma patients is usually quoted as 50-70%, with the 10-year survival rate is 42-55%. Children with epithelioid sarcoma may have somewhat better outcomes than adults, with 5 year survival rates around 65%. Pediatric patients also less often demonstrate lymphatic spread and metastasis than adults with this diagnosis. In addition to stage and grade of the tumor, gender, site, age at diagnosis, tumor size and microscopic pathology all have been shown to affect prognosis. Unsurprisingly, advanced stage and grade are associated with worse outcomes. Females tend to have more favorable outcomes than males, proximal cases show worse outcomes than distal cases. Tumors more than 2 cm in diameter and tumors with necrosis and vascular invasion also have been correlated with a worse outcome.Radiation therapy is also a treatment option when tumors are deemed inoperable or wide surgical margins are not achievable. Radiation therapy in combination with chemotherapy has so far resulted in only minimal improvements to response rates. Trials with brachytherapy (an internal radiation treatment that delivers a high dose of radiation directly to the tumor and is thought to have fewer long-term side effects) have produced some positive results.
Onset: Epithelioid sarcoma typically presents in young adults, with a peak incidence in individuals aged 20 to 40 years. However, it can occur in a wide age range, including children and older adults. The onset is often gradual, with patients commonly noticing a slow-growing, painless nodule or mass, usually in the soft tissues of the extremities or distal limbs.
Prevalence: The exact prevalence of epithelioid sarcoma is not clearly established due to its rarity. However, it is estimated to account for less than 1% of all soft tissue sarcomas. It typically affects young adults and can occur in both children and older adults. Being a rare malignancy, it often requires specialized medical attention and treatment.
Epidemiology: Epithelioid sarcoma is a rare, slow-growing soft tissue sarcoma. It typically affects young adults, most commonly appearing in individuals between the ages of 20 and 40. It is slightly more prevalent in males than females. The tumor often originates in the extremities, such as the hands, forearms, feet, or lower legs. Due to its rarity, the precise incidence rate is not well defined, but it is understood to be an uncommon malignancy among soft tissue sarcomas.
Intractability: Epithelioid sarcoma is a rare and aggressive soft tissue cancer. It is considered difficult to treat due to its propensity to recur locally and metastasize. Treatment often involves a combination of surgery, radiation, and chemotherapy, but the prognosis can be poor, especially in advanced stages. Early detection and comprehensive treatment are crucial for better outcomes.
Disease Severity: Epithelioid sarcoma is a rare and aggressive form of soft tissue cancer, often affecting young adults. The severity is typically high due to its potential to metastasize (spread) and recur, making early diagnosis and treatment crucial. If you need more detailed information or have additional questions, please specify.
Healthcare Professionals: Disease Ontology ID - DOID:6193
Pathophysiology: Epithelioid sarcoma is a rare form of soft tissue sarcoma that typically arises in the extremities, although it can occur in other body parts. It often appears as nodules in the subcutaneous tissue or deep dermis. The pathophysiology of epithelioid sarcoma involves the formation of epithelioid cells that resemble both epithelial and mesenchymal cells, displaying both keratin and vimentin.

Genetically, it is frequently associated with loss of function of the SMARCB1 (INI1) gene, which is a part of the SWI/SNF chromatin-remodeling complex. This loss leads to dysregulation of gene expression, contributing to uncontrolled cellular proliferation and resistance to apoptosis. The cancer cells often infiltrate surrounding tissues, leading to local recurrence and potential metastasis, primarily to the lungs and lymph nodes.
Carrier Status: Epithelioid sarcoma does not have a carrier status as it is not a hereditary condition. It is a rare type of soft tissue cancer that typically occurs sporadically and is not known to be passed down through families.
Mechanism: Epithelioid sarcoma is a rare soft tissue sarcoma with an enigmatic pathogenesis. The mechanism typically involves the malignant transformation of mesenchymal cells into sarcoma cells that possess an epithelioid appearance.

Molecular mechanisms underlying epithelioid sarcoma include:

1. **Loss of INI1/SMARCB1**: Most epithelioid sarcomas are characterized by the loss of SMARCB1, a tumor suppressor gene also known as INI1, hSNF5, or BAF47. This gene is a component of the SWI/SNF chromatin remodeling complex and its loss leads to dysregulation of gene expression, contributing to oncogenesis.

2. **Activation of the mTOR Pathway**: The loss of SMARCB1 may lead to hyperactivation of the mTOR signaling pathway, promoting cell growth and survival.

3. **Epigenetic Changes**: Abnormal DNA methylation and histone modifications might also play a role in the pathogenesis of epithelioid sarcoma.

4. **Other Genetic Alterations**: Although less common, alterations in other tumor suppressor genes and oncogenes can also contribute to the development of this sarcoma.

Understanding these molecular mechanisms is essential for developing targeted therapies and improving the prognosis for patients with epithelioid sarcoma.
Treatment: Surgery, radiation, and systemic therapy such as chemotherapy are all used at various times in the treatment of patients who have epitheloid sarcoma. Since sarcomas are considered very rare, it is not surprising that outcomes for patients with this type of cancer are better when patients are evaluated in expert centers, and when possible, treated there.Surgical resection of epithelioid sarcoma with wide margins remains the preferred method of treatment, and as of 2023, remains the only curative approach for the cancer, sometimes in concert with radiation or chemotherapy. Limb-sparing surgery is the standard of care for treating all sarcomas, and is used wherever possible for treatment of epithelioid sarcoma as well.In cases of advanced, recurrent, or metastasized disease, or if the tumor is inoperable, chemotherapy and radiation are the standard of care. The benefit for standard medications such as doxorubicin, ifosfamide, and combinations involving gemcitabine is generally measured in months, not years.In January 2020, The U.S. Food and Drug Administration approved the oral medication tazemetostat (trade name Tazverik), a drug that blocks the EZH2 methyltransferase, for the treatment of epithelioid sarcoma in patients aged 16 years and older with either metastatic or locally advanced (unable to be completely removed surgically) disease. The data that led to the drug's authorization have been supported by post-marketing studies. As with standard chemotherapy, the effectiveness of tazemetostat is generally measured in months, though some patients will fare better for a longer period of time.
Compassionate Use Treatment: Epithelioid sarcoma is a rare form of soft tissue cancer with limited treatment options, particularly in advanced stages. Compassionate use treatment refers to the provision of experimental drugs to patients outside of clinical trials when no comparable or satisfactory alternatives are available. For epithelioid sarcoma, here are some compassionate use and off-label treatments that might be considered:

1. **Tazemetostat (Tazverik):** This is an EZH2 inhibitor that has shown promise in clinical trials for epithelioid sarcoma. It has received accelerated approval from the FDA for the treatment of metastatic or locally advanced epithelioid sarcoma in patients aged 16 years and older.

2. **Immune Checkpoint Inhibitors:** Drugs such as pembrolizumab (Keytruda) or nivolumab (Opdivo), which are commonly used to treat other types of cancers, may be considered off-label for epithelioid sarcoma under compassionate use programs, particularly if there is evidence of PD-L1 expression.

3. **mTOR Inhibitors:** Everolimus (Afinitor) and sirolimus (Rapamune) could be considered experimental or off-label options due to their potential in targeting pathways involved in sarcoma growth.

4. **Targeted Therapies:** Other molecular-targeted therapies may be employed based on specific genetic mutations identified in the tumor. For example, tyrosine kinase inhibitors like pazopanib (Votrient) might be an option.

5. **Chemotherapy:** Though not always effective, certain chemotherapy regimens may still be used in off-label contexts for advanced cases.

Patients interested in these treatments often need to consult with their healthcare providers to discuss eligibility and potential benefits, as well as to navigate the necessary approvals for compassionate use.
Lifestyle Recommendations: Epithelioid sarcoma is a rare type of soft tissue cancer that typically affects young adults. Here are some lifestyle recommendations that can help support overall health and potentially aid in managing the condition:

1. **Regular Medical Follow-up**: Keep all scheduled appointments with your healthcare provider for monitoring the disease and any treatment side effects.

2. **Healthy Diet**: Eat a balanced diet rich in fruits, vegetables, whole grains, lean proteins, and healthy fats. Proper nutrition can support your immune system and overall health.

3. **Physical Activity**: Engage in regular physical activity as tolerated. Exercise can improve physical function, reduce fatigue, and enhance quality of life.

4. **Avoid Tobacco and Limit Alcohol**: Smoking and excessive alcohol can interfere with treatment and recovery, so it's best to avoid smoking and limit alcohol consumption.

5. **Mental Health**: Seek support from mental health professionals, support groups, or counseling to manage stress, anxiety, or depression related to your diagnosis and treatment.

6. **Skin Care**: Since epithelioid sarcoma often affects the skin and underlying tissues, take extra care to monitor the skin for changes and consult a healthcare provider if you notice any new or worsening symptoms.

7. **Sun Protection**: Protect the affected areas of your skin from excessive sun exposure, which can cause additional damage or complications.

These lifestyle recommendations should complement the treatment plan provided by your healthcare team. Always consult with your doctor before making any significant changes to your lifestyle or treatment plan.
Medication: Epithelioid sarcoma is a rare type of soft tissue sarcoma. Treatment typically involves surgical removal of the tumor, often combined with radiation therapy or chemotherapy to reduce the risk of recurrence. There is no single medication specifically indicated for epithelioid sarcoma, but advanced cases may be treated with systemic therapies such as chemotherapy agents (e.g., doxorubicin, ifosfamide) or targeted therapies. Recently, tazemetostat, an EZH2 inhibitor, has been approved for treating metastatic or locally advanced epithelioid sarcoma not eligible for complete resection. It is essential to consult with an oncologist for personalized treatment plans.
Repurposable Drugs: Epithelioid sarcoma is a rare form of soft tissue cancer that typically affects young adults. Given its rarity, there are few established treatment protocols, and research into repurposing existing drugs is ongoing. Some drugs that have shown potential for repurposing include:

1. **Tazemetostat:** An EZH2 inhibitor, it has been approved by the FDA for patients with metastatic or locally advanced epithelioid sarcoma who are not eligible for complete resection.

2. **Pazopanib:** A multi-kinase inhibitor that has shown activity in various sarcomas and might offer benefits in epithelioid sarcoma.

3. **Immunotherapy drugs:** Checkpoint inhibitors like pembrolizumab and nivolumab are being explored, given their success in other cancers.

Research in this field is evolving, and participation in clinical trials may provide access to emerging therapies.
Metabolites: Epithelioid sarcoma is a rare type of soft tissue cancer, most often occurring in young adults. Specific metabolites associated with epithelioid sarcoma have not been well-characterized or extensively documented. Research in this area is ongoing to better understand the metabolic pathways and identify potential biomarkers for early detection and treatment.
Nutraceuticals: Epithelioid sarcoma is a rare type of soft tissue sarcoma. Currently, there is limited evidence to support the use of nutraceuticals in its treatment. Nutraceuticals are food-derived products with potential health benefits, but their effectiveness and safety in treating epithelioid sarcoma have not been well-studied. Always consult with a healthcare provider before considering any alternative treatments.
Peptides: Epithelioid sarcoma is a rare type of soft tissue cancer that often begins in the extremities. It is characterized by nodules that may resemble ulcers. Treatment may include surgery, radiation, and chemotherapy. Research is ongoing in the area of targeted therapy, which includes investigating the use of specific peptides and nanoparticles to deliver drugs directly to cancer cells, improving efficacy and minimizing side effects.