PTEN hamartoma tumor syndrome boosts risk of thyroid cancer, even in childhood

Among people with phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS), the lifetime risk of developing thyroid cancer is much higher - even in childhood, according to a recent set of case studies.

Published in the Journal of Clinical Endocrinology and Metabolism (JCEM), the paper described the medical histories of seven children between the ages of 6 and 12, all of whom had PHTS. The authors reported diagnosing thyroid cancer in five of these patients.

PHTS is an inherited disorder that causes tumor-like growths, called hamartomas, throughout the body. These small nodules are usually harmless in and of themselves, but the condition predisposes people with PHTS to a much higher likelihood of many different forms of cancer.

For example, people with PHTS have a 10 percent lifetime risk of developing thyroid cancer, according to a study appearing in the Journal of Medical Genetics (JMG).

By contrast, the National Cancer Institute estimates that the average American has slightly under a 1 percent chance of being diagnosed with the disease.

This ten-fold increase in the odds of thyroid cancer can manifest itself even in childhood. In the new JCEM report, researchers described examining seven children with PHTS.

All seven had either thyroid nodules, carcinomas or both. Of the five pediatric PHTS patients diagnosed with malignant tumors, all had follicular thyroid cancer. According to the JMG study, PHTS-related thyroid tumors are almost exclusively of the follicular variety.

Follicular carcinomas account for about one quarter of all thyroid cancers, according to the Columbia University Department of Surgery.

Since this form of thyroid cancer is relatively aggressive, the team recommended that anyone with PHTS, even children, get routine ultrasound screenings to ensure good thyroid health and detect potential tumors early.

At least one in every 200,000 Americans has PHTS, though difficulty diagnosing it means the true prevalence of the condition may be much higher, the JMG study noted.