NCCN Guidelines for men and women with Cowden syndrome (PTEN Mutations)
Breast cancer risk management for women
- Learning to be aware of changes in breasts beginning at age 18.
- Clinical breast exam every 6-12 months beginning at age 25 or earlier based on family history.
- Annual mammogram with consideration of 3D mammograms and breast MRI with contrast and mammogram beginning at age 30-35 or earlier if family history of breast cancer before age 30.
- Screening after age 75 should be considered on an individual basis.
- Discussion of risk-reducing mastectomy.
Uterine cancer risk management
- For uterine cancer screening, consider starting by age 35.
- Women should be educated about symptoms of uterine cancer, (eg, abnormal bleeding) and should report any symptoms to their health care providers.
- Because endometrial cancer can often be detected early based on symptoms, women should be educated to report any abnormal uterine bleeding or postmenopausal bleeding to their doctor. The evaluation of these symptoms should
include endometrial biopsy.
- Consider screening with an endometrial biopsy every 1 to 2 years can be considered.
- Transvaginal ultrasound is not recommended as a screening tool in premenopausal women due to the wide variation in uterine thickness throughout the normal menstrual cycle. Although there is not enough evidence to recommend transvaginal ultrasound for postmenopausal women, this screening may be considered at the doctor's discretion.
- Consider hysterectomy after completion of childbearing
Recommended screening for both men and women
- Annual physical exam starting at age 18 or 5 years before the youngest age of diagnosis of a component cancer in the family.
- Annual thyroid ultrasound starting at age 7.
- Colonoscopy every 5 years beginning age 35 or earlier based on family colon cancer history.
- Consider kidney ultrasound every 1-2 years starting at age 40.
- Annual dermatology exam.
- Consider neurologic assessment in children at diagnosis and brain MRI if there are symptoms.
- Education regarding the signs and symptoms of cancer.
- For patients of reproductive age, advise about options for prenatal diagnosis and assisted reproduction including pre-implantation genetic diagnosis.
Risk to relatives
- Advise about possible inherited cancer risk to relatives, options for risk assessment, and management.
- Recommend genetic counseling and consideration of genetic testing for at-risk relatives.