Breast cancer. Colon cancer. An enlarged thyroid gland. A family history of tumors and cancers too. Only when the woman developed an annoying case of a dry mouth did doctors put it all together. By that time she was in the 60s.
According to a new case study in Jama dermatology, the woman presented after three months of oral unpleasantness to a dermatological clinic in Spain. They noticed the cancers in her medical history. When she opened wide, doctors immediately saw the problem: her tongue was covered with small warty bumps that looked on a smooth, flesh -colored paved path. (Image here.)
Such a paved tongue is a meaningful sign of a rare genetic disorder called Cowden syndrome. It is caused by hereditary mutations that break a protein, called pts, leading to tumors and cancers.
PTEN, that stands for phosphatase and tensine homologist, generally helps to prevent cells from growing from control. In particular, PTEN deactivates a signal lipide called PIP3 (Phosphatidylinositol 3.4.5-trisphosphate), and that blocks deactivation a signal route (the PI3K/AKT/MTOR route) that is involved in regulating cell growth, survival and migration. When pts is broken, pip3 Activity increases and tumors can be uncontrolled.
Non-so-stupid mutation
In cowden -syndrome, pts -mutations lead to non -cancer -like tumors or masses called hamartomas that can occur in any organ. But people with the syndrome also run a high risk of developing a whole series of cancer -like growths – the most often cancers of the chest, thyroid and uterus – after their lives. It is therefore advised that people with the condition are advised to undergo intensive cancer investigations, including annual ultrasound gines from the age of 7 and annual mammograms and MRIs (magnetic resonance image formation) from the age of 30.
