SEF

Sclerosing Epithelioid Fibrosarcoma

Sclerosing Epithelioid Fibrosarcoma (“SEF”) is a type soft tissue sarcoma that is defined by the National Cancer Institute as "a rare type of cancer that forms in fibrous (connective) tissue. Sclerosing epithelioid fibrosarcoma is a slow growing tumor, but may recur and spread to other parts of the body many years after treatment. It usually occurs in middle-aged or older adults, and is rare in children and adolescents.”

Symptoms

Various symptoms can lead to the diagnosis of SEF, but often patients don’t even notice symptoms until the cancer has progressed to areas other than the location of the primary tumor. This is what makes this particular form of cancer so difficult to recognize and treat. Many patients first report issues with bones in their limbs or pain in their digestive organs. Masses are often found in the lungs as well.

Diagnosis

SEF is often misdiagnosed due to its potential to resemble other tumor patterns, and pathology alone may not lead to a specific diagnosis. Genetic testing and ruling out other forms of sarcoma are often the two primary ways that SEF gets diagnosed.

Genetics

The genetic information on SEF is limited to data on fusion gene status, revealing a predominance (80%–90% of the cases) of EWSR1-CREB3L1, but occasionally showing recurrent alternative EWSR1-CREB3L2 and FUS-CREB3L2 fusions. The over-expression of CD24 and MUC4 are also helpful indicators of SEF. 

Prognosis

SEF is considered to be an aggressive and malignant cancer with high potential for metastasis. Prognosis is generally considered poor, but depends on several factors, such as the size, stage and location of the tumor, along with the age and health of the patient. Chemotherapy and radiation can be used to stabilize cancer growth, but tumor excision through surgery has been considered the most effective approach to decreasing the chance of recurrence. There is currently no known cure for SEF and it has rarely been studied, which is why there is such an immediate need for funding of active and innovative research to change the current prognosis of this disease.