Study explores link between thyroid cancer and genetic tumor disorder

For a number of years, scientists have been investigating the association between thyroid cancer and PTEN Hartoma Tumor Syndrome (PHTS), a genetic disorder that increases an individual's likelihood of having cancer.

In a new study of the pediatric intersection of the two conditions, endocrinologists from two Massachusetts hospitals found that young patients with PHTS had an estimated 70 percent incidence of thyroid nodules and thyroid cancer.

The group, which was composed of endocrinologists and other healthcare experts from Children's Hospital Boston and Brigham and Women's Hospital, published their findings in the Journal of Clinical Endocrinology and Metabolism.



PHTS is a complex condition caused by the mutation or deletion of a gene that regulates the production of phosphatase and tensin homolog (PTEN), a protein that is a crucial part of the body's natural defenses against cancer.



PTEN proteins help keep the cycle of cell division and death balanced and in working order, moving neither too fast nor too slow. If a person's PTEN gene is damaged or missing, they may be at a high risk for certain forms of cancer, according to the Children's Hospital of Philadelphia (CHP).

By the age of 20, people with PHTS often display a number of noticeable PHTS symptoms, which can include cognitive delays, an enlarged head, skin tags and certain kinds of cancer, the hospital states. The disorder can also lead to severe tumors of the skin, bones and glands.

The CHP notes that the most common cancers associated with PHTS are those of the breast, uterine lining and thyroid gland.

In the new study, physicians detected thyroid nodules or outright thyroid cancer in five out of seven children between the ages of 6 and 12. All seven patients had previously been diagnosed with PHTS.

They concluded that a diagnosis of PHTS should engender an strong clinical suspicion of the presence of thyroid cancer, and vice versa. They added that ultrasound scans may safely be used to search for thyroid nodules in children of all ages.

Nearly 2 percent of annual thyroid cancer cases in the U.S. are diagnosed in people under the age of 20, according to the National Cancer Institute.
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