8. The Spectrum of PTEN Hamartoma Tumor Syndrome
As we delve into the eighth fact, we discover that PTEN gene mutations are not just associated with individual conditions, but they also play a pivotal role in a spectrum of disorders known collectively as PTEN Hamartoma Tumor Syndrome (PHTS). This includes Cowden Syndrome, Bannayan-Riley-Ruvalcaba Syndrome, and Proteus Syndrome, among others.
PTEN Hamartoma Tumor Syndrome is characterized by the growth of benign tumors known as hamartomas, in various parts of the body. PHTS also includes conditions that are associated with an increased risk of cancer, particularly breast, thyroid, and endometrial cancer.
Interestingly, the type and severity of symptoms associated with PHTS can vary significantly among individuals, even among those within the same family. This variation is thought to be a result of other genetic and environmental factors that can influence the manifestation of PTEN gene mutations. (8)
