Expert Reviewed By: Dr. Brandon Colby MD
Squamous cell carcinoma (SCC) is a common form of skin cancer that arises from the squamous cells in the outer layer of the skin. Burn scar-related squamous cell carcinoma, as the name suggests, develops in the scar tissue formed after a severe burn injury. While the exact cause of this cancer is not fully understood, recent studies have identified specific genetic mutations that may play a crucial role in its development. In this article, we will discuss the importance of understanding, diagnosing, and using genetic testing for burn scar-related squamous cell carcinoma.
Understanding Burn Scar-Related Squamous Cell Carcinoma
SCC is the second most common type of skin cancer, with over 1 million new cases diagnosed in the United States each year. Burn scar-related SCC, however, is a rare and aggressive subtype that tends to have a poor prognosis. This is mainly because it often goes undetected until it has reached an advanced stage. The risk of developing burn scar-related SCC increases with the severity of the burn injury and the time elapsed since the injury.
Genetic Mutations in Burn Scar-Related Squamous Cell Carcinoma
Recent studies have identified specific genetic mutations associated with burn scar-related SCC, providing valuable insights into the pathogenesis of this cancer subtype. These mutations can be categorized into three main groups:
Fas Gene Mutations
A study published in the Journal of Investigative Dermatology found Fas gene mutations in 14.3% of burn scar-related squamous cell carcinomas. The Fas gene is involved in the regulation of cell death and plays a crucial role in preventing the development of cancer. Mutations in this gene can lead to uncontrolled cell growth, increasing the risk of cancer.
Mutations in Other Cancer-Related Genes
A study published in the American Association for Cancer Research identified frequent mutations in TP53, NOTCH1, CDKN2A, SYNE1, PIK3CA, ROS1, and TAF1L genes in oral squamous cell cancer. Some of these mutations may also be involved in the development of burn scar-related SCC, although further research is needed to confirm this.
Mutations Associated with Poor Survival
A study published in the Nature Scientific Reports identified 18 significantly mutated genes in esophageal squamous cell carcinoma. Among these, AJUBA mutations and mutational signature4 were found to correlate with poorer survival. It is possible that similar mutations may also have clinical relevance in burn scar-related SCC.
Using Genetic Testing for Burn Scar-Related Squamous Cell Carcinoma
Genetic testing can provide valuable information about the presence of specific mutations in individuals with burn scar-related SCC. This information can be used for various purposes:
Early Detection and Diagnosis
Identifying the presence of specific genetic mutations in individuals with a history of severe burns can help in the early detection and diagnosis of burn scar-related SCC. This can lead to more effective treatment and improved prognosis.
Personalized Treatment
Understanding the genetic profile of a patient's tumor can help doctors develop a personalized treatment plan that targets the specific mutations present in the cancer cells. This can potentially improve the effectiveness of treatment and reduce the risk of side effects.
Prognostic Information
Some genetic mutations are associated with a poorer prognosis in burn scar-related SCC. Identifying these mutations can help doctors provide more accurate prognostic information to patients and their families, allowing them to make more informed decisions about treatment and care.
Future Research
Understanding the genetic mutations involved in burn scar-related SCC can help researchers develop new targeted therapies and diagnostic tools, ultimately improving the outcomes for patients with this aggressive form of cancer.
In conclusion, genetic testing plays a crucial role in understanding, diagnosing, and treating burn scar-related squamous cell carcinoma. As our knowledge of the genetic underpinnings of this disease continues to grow, we can hope for more effective and personalized treatment options for patients 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)