How is PHTS/Cowden syndrome treated?
Currently, there is no cure for PHTS/Cowden syndrome. Patients undergo lifelong surveillance to monitor for benign and cancerous growths to help detect any problems at the earliest, most treatable point in time.
It’s recommended that people with PHTS/Cowden syndrome have:
- Specialized breast cancer screening. This should include breast self-examination every month beginning at age 18, breast examination by a doctor or nurse every 6 months beginning at age 25, and mammography/breast MRI once a year beginning at age 30-35 or 5-10 years earlier than the youngest breast cancer diagnosis in the family. There are men with PHTS/Cowden syndrome who have developed breast cancer. Although the risk is much lower than that for women, we would recommend that the men perform monthly breast self-examination. Some women at increased risk for breast cancer consider prophylactic mastectomy (removal of the breasts to prevent cancer).
- Thyroid cancer screening. For persons with PTEN mutations we recommend a baseline thyroid ultrasound at the age of diagnosis with at least yearly follow-up thereafter by an endocrine specialist.
- Imaging of the kidneys every 1-2 years starting at age 40.
- A baseline colonoscopy (examination of the colon and rectum with flexible lighted tube) should be done at age 35 years, or 5-10 years younger than the earliest colorectal cancer diagnosis in the family, with follow-up dependent on the number and type of polyps found. A variety of different types of hamartomatous polyps are commonly seen in the upper gastrointestinal tract and colorectum in persons with PTEN mutations. Baseline upper endoscopy may be recommended to help establish or confirm the diagnosis of Cowden syndrome. Ongoing upper endoscopic exam of the stomach and upper small bowel is based upon the findings on the baseline exam.
- Dermatologic management if needed.
- Women who are PTEN positive should also see a gynecologic oncologist to discuss what kind of screening for endometrial cancer should be performed. Consideration can be given to annual random endometrial biopsies.
PLEASE NOTE: There are no studies that prove that cancer screening is effective for individuals with PHTS/Cowden syndrome. The recommendations are based on the opinion of experts in the field of cancer genetics and PHTS/Cowden syndrome. As with most cancer screening, these recommendations will hopefully help to detect cancers at an earlier stage when they are more treatable, but they cannot prevent the cancer from occurring.