Expert Reviewed By: Dr. Brandon Colby MD
Ewing sarcoma is a rare but aggressive type of cancer that primarily affects children and young adults. It usually develops in the bones, but can also occur in the soft tissues surrounding them, known as soft tissue Ewing sarcoma. This article will delve into the understanding, diagnosis, and the importance of genetic testing for Ewing sarcoma of soft tissue.
Understanding Ewing Sarcoma of Soft Tissue
Ewing sarcoma is a type of tumor that can develop in various parts of the body, including bones and soft tissues. Soft tissue Ewing sarcoma is a rare subtype that occurs in the soft tissues surrounding the bones, such as muscles, tendons, and fat. Other types of Ewing sarcoma include Ewing sarcoma of bone, extraosseous Ewing sarcoma, peripheral primitive neuroectodermal tumor (pPNET), and Askin tumor [1].
Although the exact cause of Ewing sarcoma is still unknown, it is believed to be related to certain genetic changes. The majority of Ewing sarcoma cases are characterized by a specific chromosomal translocation, which is a rearrangement of genetic material between two chromosomes. This translocation leads to the formation of an abnormal fusion gene called EWSR1-FLI1, which plays a critical role in the development and progression of Ewing sarcoma [4].
Diagnosing Ewing Sarcoma of Soft Tissue
Diagnosing Ewing sarcoma of soft tissue can be challenging due to its rarity and the fact that its symptoms often resemble those of other conditions. The diagnostic process typically begins with a thorough physical examination and medical history, followed by imaging studies such as X-rays, computed tomography (CT) scans, magnetic resonance imaging (MRI), and positron emission tomography (PET) scans [2].
To confirm the diagnosis, a biopsy is usually performed. This involves removing a small sample of the tumor for examination under a microscope. The biopsy can provide information about the tumor's appearance, as well as the presence of specific genetic abnormalities, such as the EWSR1-FLI1 fusion gene [4].
The Role of Genetic Testing in Ewing Sarcoma
Confirming the Diagnosis
Genetic testing plays a crucial role in the diagnosis of Ewing sarcoma. Identifying the presence of the EWSR1-FLI1 fusion gene or other related genetic abnormalities can help confirm the diagnosis and differentiate Ewing sarcoma from other similar-appearing tumors, such as rhabdomyosarcoma, synovial sarcoma, and desmoplastic small round cell tumor [4].
Guiding Treatment Decisions
Genetic testing can also provide valuable information for guiding treatment decisions. For example, the presence of certain genetic abnormalities may indicate a higher risk of recurrence or metastasis, which could influence the choice of treatment options, such as surgery, chemotherapy, radiation therapy, or targeted therapies [2].
Monitoring Treatment Response and Detecting Recurrence
By monitoring the levels of the EWSR1-FLI1 fusion gene or other genetic markers in the blood or other body fluids, doctors can assess a patient's response to treatment and detect any signs of recurrence at an early stage. This can help guide ongoing treatment strategies and improve the chances of a successful outcome [2].
Identifying Potential Clinical Trials
Genetic testing can also help identify patients who may be eligible for clinical trials investigating new treatments for Ewing sarcoma. By participating in a clinical trial, patients may have access to innovative therapies that are not yet widely available [2].
Conclusion
Understanding, diagnosing, and using genetic testing for Ewing sarcoma of soft tissue is essential for providing optimal care to patients with this rare and aggressive cancer. By identifying the presence of specific genetic abnormalities, doctors can confirm the diagnosis, guide treatment decisions, monitor treatment response, detect recurrence, and identify potential clinical trials. As our knowledge of the genetic basis of Ewing sarcoma continues to grow, it is likely that genetic testing will play an even more significant role in the management of this disease in the future.
About The Expert Reviewer
Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of and the author of Outsmart Your Genes.
Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (ACMG), an Associate of the American College of Preventive Medicine (ACPM), and a member of the National Society of Genetic Counselors (NSGC)