What are the other Names for this Condition? (Also known as/Synonyms)

• Cutaneous Ewing’s Sarcoma
• PCES (Primary Cutaneous Ewing’s Sarcoma)
• Primary Ewing’s Sarcoma of Skin

What is Primary Cutaneous Ewing’s Sarcoma? (Definition/Background Information)

Ewing’s Family of Tumors includes the following tumors:

• Ewing’s Sarcoma of Bone
• Extraosseous Ewing’s Tumor
• Primitive Neuroectodermal Tumor (PNET), including Medulloblastoma - Adult type and Medulloblastoma - Childhood type
• Askin’s Tumor: This tumor is also sometimes called, Primitive Neuroectodermal Tumor of Chest Wall, and Ewing’s Sarcoma of Chest Wall
• Primary Cutaneous Ewing’s Sarcoma (PCES)

All the above-mentioned tumors arise from a primitive stem cell.

• Primary Cutaneous Ewing’s Sarcoma (PCES) is a life-threatening and malignant type of skin tumor that affects older children
• It is a very rare tumor with very few cases being reported worldwide
• When Ewing’s Sarcoma originates in the soft tissues, it is called Extraosseous Ewing’s Sarcoma; when it originates in the skin, it is called Primary Cutaneous Ewing’s Sarcoma, or Primary Ewing’s Sarcoma of Skin
• It is believed that the tumor is caused by genetic defects on chromosome 11, chromosome 22, chromosome 8, and chromosome 12
• However, with a global incidence rate of less than 1 in 500,000, Ewing’s Family of Tumors are rare types of tumors
• The treatment modalities used to treat this tumor are surgery, chemotherapy, and radiation therapy. The prognosis depends on the stage of the tumor, but is slightly better, when compared to other Ewing’s Sarcoma tumor types. Though, metastatic tumors have a poor prognosis

Who gets Primary Cutaneous Ewing’s Sarcoma? (Age and Sex Distribution)

• Older children and young adults are primarily affected by Primary Cutaneous Ewing’s Sarcoma. The mean age at diagnosis is 17 years
• Adults over the age of 30 years, are highly unlikely to get this condition
• Unlike ES of Bone which has a male predominance, PCES has a female predominance. Girls are affected more commonly than boys, in a 2:1 ratio
• Caucasians are more prone to PCES, than Asians, Africans, and Afro-Americans, by a factor of 10. Hence, PCES is rarely seen in African Americans and Asians

What are the Risk Factors for Primary Cutaneous Ewing’s Sarcoma? (Predisposing Factors)

• Genetic mutations could be a possible causal factor for Primary Cutaneous Ewing’s Sarcoma
• Prior radiation therapy for a completely different tumor may potentially cause the development of PCES, at the site of radiation therapy

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Primary Cutaneous Ewing’s Sarcoma? (Etiology)

• Primary Cutaneous Ewing’s Sarcoma display recurrent chromosomal translocation (between chromosomes 11 and 22) with minor chromosomal anomalies (on chromosomes 8 and 12)
• Specific translocations between chromosomes 11 and 22 is present, in over 85% of the patients
• Such genetic mutations are known to have potentially cancerous traits. However, a specific reasons for these mutations to occur, is not established yet

What are the Signs and Symptoms of Primary Cutaneous Ewing’s Sarcoma?

The presentations are based on the location of the tumor. Signs and symptoms of Primary Cutaneous Ewing’s Sarcoma may include:

• The tumor occurs in a decreasing order of frequency at the following regions:
  • Lower limbs
  • Upper limbs
  • Head and neck
  • Trunk
• The tumor occurs as a mass under the skin. The mass is usually painless, but occasionally can be painful. The mass is usually 2 to 3 cm in size
• Fever, which may be observed frequently, may indicate an infection
• Anemia (low red cell count in blood); leukocytosis (above normal levels of white blood cells)
• Increased blood erythrocyte sedimentation rate
• Weight loss

How is Primary Cutaneous Ewing’s Sarcoma Diagnosed?

It has been observed that the mean age of the individual, at diagnosis of PCES tumor is 17 years, and the average tumor size about 2.5 cm. Diagnostic tools for Primary Cutaneous Ewing’s Sarcoma include:

• Physical exam with complete medical history evaluation
• MRI scans, CT scans, to examine magnitude of the tumor mass and its spread
• Skin biopsy - the specimen is examined under a microscope by a pathologist, to arrive at a definitive diagnosis
• Genetic tests and analysis, to test for specific mutations associated with PCES

Differential diagnosis, to eliminate the following tumor types may be considered, before arriving at a definitive diagnosis:

• Dedifferentiated synovial sarcoma
• Desmoplastic small round cell tumors
• Lymphoma
• Medulloblastoma
• Mesenchymal chondrosarcoma
• Rhabdomyosarcoma
• Small cell osteosarcoma

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Primary Cutaneous Ewing’s Sarcoma?

Complications due to Primary Cutaneous Ewing’s Sarcoma are:

• Metastasis of the tumor to other vital body organs, such as the lungs and bone marrow
• Damage of the bones, vital nerves, and blood vessels, during surgery
• Side effects from chemotherapy (such as toxicity), radiation therapy
• Recurrence of the tumor after treatment

How is Primary Cutaneous Ewing’s Sarcoma Treated?

Treatment measures for Primary Cutaneous Ewing’s Sarcoma include the following:

• The treatment protocol that is planned by a team of healthcare professionals is based on a variety of factors, such as:
  • The tumor stage
  • Location of the tumor
  • Tumor size
  • And whether the tumor has metastasized
• Any combination of chemotherapy, radiation therapy and invasive procedures are used to treat this tumor. Generally, the treatment is administered at a medical center that has prior experience in treating such tumors

How can Primary Cutaneous Ewing’s Sarcoma be Prevented?

• Current medical research have not established a way of preventing Primary Cutaneous Ewing’s Sarcoma
• Genetic counseling and genetic testing could help those individuals having a family history of the condition, planning for a child
• Regular medical screening at periodic intervals with blood tests, scans, and physical examinations, are mandatory for those who have already endured PCES
• Besides, due to its high metastasizing potential, often, several years of active vigilance is necessary

What is the Prognosis of Primary Cutaneous Ewing’s Sarcoma? (Outcomes/Resolutions)

• The overall survival rate with this tumor type is around 93%. The prognosis is better if Primary Cutaneous Ewing’s Sarcoma is:
  • Diagnosed at an early stage
  • Features a small-sized tumor that has not spread to other areas
  • The individuals’ response to the treatment procedure is good
• Over 65% of children, who have localized PCES (low-stage tumors) survive for a longer period
• If the tumor has spread to other parts of the body, then less than one-third of the individuals, survive the condition
• Improved outcomes have been obtained with radiotherapy and chemotherapy and the survival rate is above 40%

Additional and Relevant Useful Information for Primary Cutaneous Ewing’s Sarcoma:

• Primary Cutaneous Ewing’s Sarcoma and its management can cause physical and emotional distress. Often, supportive care and encouragement help positively in bringing about a measure of relief, to the patients
• Both, Ewing’s Sarcoma and Primitive Neuroectodermal Tumor, are round cell sarcomas (types of cancer), with ES lacking neuroectodermal differentiation, while PNET presents such features
• Ewing’s Sarcoma that originate elsewhere in the body and metastasize to the skin, are not considered Primary Cutaneous Ewing’s Sarcoma
• It is estimated that 200 new cases of Ewing’s Family of Tumors are diagnosed newly in the US per year