A 32-year-old woman discovered she had a disorder called Cowden syndrome after developing multiple benign bumps on her lips. Called oral mucosal papillomas, these growths are a key symptom of the disorder.
Cowden syndrome raises a woman’s chances of developing breast cancer to 85%.
Developing multiple noncancerous, tumor-like growths called hamartomas is a key characteristic of the disorder, and nearly everyone with the disorder develops them to some degree. They usually appear by the time a person is in their late 20s, and they appear most often on the skin or along the mucous membranes in the mouth and nose. They can also appear in other areas of the body, like the intestines. Researchers estimate the syndrome affects 1 in 200,000 people.
The case study was published in the New England Journal of Medicine (NEJM).
For several months, the woman had felt multiple lumps in her breast that were sensitive to the touch. When she went to the doctor to get them checked out, her medical team also noticed the bumps on her lips and were concerned. This eventually led to genetic testing which revealed that she had Cowden syndrome.
The unnamed woman, who did not have a history of breast cancer in her family, was diagnosed with estrogen receptor-positive invasive ductal carcinoma, which is a type of breast cancer that forms in the milk ducts. She underwent a double mastectomy as part of her treatment. The case study did not mention how her health was after the surgery, or what next steps would be.
Most people with the Cowden syndrome have a mutation in the PTEN gene. The gene typically produces a tumor-suppressing protein that stops cells from growing and dividing uncontrollably. When there are mutations in the gene, cells divide more rapidly and this can lead to tumors, both benign and cancerous.
The syndrome significantly increases a person’s risk of developing multiple types of cancers, including breast cancer, thyroid cancer, endometrial cancer (along the lining of the uterus), colorectal cancer, kidney cancer, and melanoma (skin cancer). People with the disorder can develop these types of cancer at a much younger age than the rest of the population, often in their 30s and 40s.
Other features of mutations of the PTEN gene can include macrocephaly (the medical term for a large head) and intellectual disability like autism, though researchers aren’t sure exactly how mutations in the gene lead to these conditions. Autism spectrum disorder can occur in 23% of people with PTEN mutations.
Other genes that can sometimes be responsible for Cowden Syndrome include mutations of the genes SDHB, SDHD, and KLLN.
The best thing a person with Cowden syndrome can do is get early, enhanced cancer screenings. Since their cancer risk is so much higher than the general population, catching any tumors early ups the chance that they’ll be caught and treated at a less advanced stage.
C. Dixon likes to read, sing, eat, drink, write, and other verbs. She enjoys cavorting around the country to visit loved ones and experience new places, but especially likes to be at home with her husband, son, and dog.