Thyroid Cancer's Three Gene Soup

Thyroid cancer involves PTEN and other mutations

/ Author:  / Reviewed by: Joseph V. Madia, MD

(RxWiki News) Thyroid cancer is on the rise in the United States among both men and women, but no one knows why exactly. What is becoming clearer, though, is what increases a person's risk for the disease.

Three genes have been discovered to elevate the chance of developing thyroid cancer. These recent findings may enhance how the disease is treated.

"If you're diagnosed with cancer, research genetic testing."

Charis Eng, M.D., Ph.D., chair and founding director of the Genomic Medicine Institute of Cleveland Clinic's Lerner Research Institute, led the research which included nearly 3,000 people who had Cowden syndrome (CS) or a CS-like disease. CS increases an individual's risk of both breast and thyroid cancer.

At the heart of CS is a rearrangement of the PTEN gene, a good and protective gene that suppresses tumors. The PTEN is sort of like a band leader, directing cells to grow and divide.

PTEN mutations that have been passed down from parent to child show up in about 80 percent of people with Cowden syndrome. These changes interrupt the gene's ability to oversee a cell's survival and division. This disruption allows tumors to form because the PTEN gene is no longer able to do its job.

This new research found that six children under the age of 18 had this PTEN mutation. As a result, researchers recommend that doctors closely monitor the thyroids of children with CS-like diseases who have this genetic abnormality.

Additionally, the authors say that youngsters who develop thyroid cancer should be tested for PTEN rearrangements. Changes in this gene, unfortunately, might also call for increased surveillance for other diseases, including additional kinds of cancer.

Changes in two other genes - SDH and KLLN - were not linked to thyroid cancer in children.

Genetic counseling already routinely includes PTEN gene testing, which has advanced personalized cancer treatment. After the findings regarding the other two genes have been independently validated, researchers think a routine test that looks at all three could become an important diagnostic tool.

Furthermore, knowing which gene is involved could allow for even more personalized treatment that targets the specific mutation involved.

This research is published in the December, 2011 edition of the Journal of Clinical Endocrinology & Metabolism.

Reviewed by: 
Review Date: 
December 27, 2011
Last Updated:
December 28, 2011