Breast cancer. Colon cancer. An enlarged thyroid gland. A family history of tumors and cancers as well. It wasn’t until the woman developed an annoying case of dry mouth that doctors put it all together. By then, she was in her 60s.
According to a new case study in JAMA Dermatology, the woman presented to a dermatology clinic in Spain after three months of oral unpleasantness. They noted the cancers in her medical history. When she opened wide, doctors immediately saw the problem: Her tongue was covered in little wart-like bumps that resembled a slippery, flesh-colored cobblestone path. (Image here.)
Such a cobblestone tongue is a telltale sign of a rare genetic condition called Cowden syndrome. It’s caused by inherited mutations that break a protein, called PTEN, leading to tumors and cancers.
PTEN, which stands for phosphatase and tensin homolog, generally helps keep cells from growing out of control. Specifically, PTEN deactivates a signaling lipid called PIP3 (phosphatidylinositol 3,4,5-trisphosphate), and that deactivation blocks a signaling pathway (the PI3K/AKT/mTOR pathway) involved in regulating cell growth, survival, and migration. When PTEN is broken, PIP3 activity ramps up, and tumors can grow unchecked.
Not-so-rare mutation
In Cowden syndrome, PTEN mutations lead to noncancerous tumors or masses called hamartomas, which can occur in any organ. But, people with the syndrome are also at high risk of developing a slew of cancerous growths—most commonly cancers of the breast, thyroid, and uterus—over their lifetime. That’s why people diagnosed with the condition are advised to undergo intensive cancer screenings, including annual ultrasounds of the thyroid starting at age 7 and annual mammograms and MRIs (magnetic resonance imaging) starting at age 30 at the latest.
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