About Peutz-Jeghers Syndrome
Peutz-Jeghers syndrome (PJS) is a genetic condition that is diagnosed when a pathogenic variant in the STK11 gene affects the normal growth and function of a cell. The STK11 gene is a tumor suppressor that helps prevent cells from growing and dividing too fast or in an uncontrolled way. A pathogenic variant in the STK11 gene can lead to the formation of Peutz-Jeghers-type hamartomatous polyps (clumps of cells), also known as Peutz-Jeghers polyps, in the gastrointestinal tract. Most Peutz-Jeghers polyps are benign (noncancerous); however, cancer can develop. Individuals with PJS are at an increased risk for breast cancer, lung cancer, ovarian cancer, testicular cancer, pancreatic cancer, stomach cancer, small intestine cancer, and colon cancer. Individuals diagnosed with PJS also have distinct freckling of the skin frequently found around the mouth and on the lips, eyes, and fingers.
Cancer risks associated with Peutz-Jeghers syndrome include:
- Breast cancer
- Cervical cancer
- Colorectal/colon cancer
- Gastric/stomach cancer
- Lung Cancer
- Ovarian cancer
- Pancreatic cancer
- Small intestine cancer
- Testicular cancer
- Uterine cancer
Cancer Screening and Risk Reduction for Peutz-Jeghers Syndrome
Understanding your risk for developing cancer as well as the options available to you for prevention, early detection, and treatment can help improve your quality of life. Clinical management guidelines for surveillance and risk-reduction strategies differ from person to person and should involve a shared decision between you and your healthcare provider who takes into account risk factors specific to you. Recommendations may include:
- Annual pelvic examination and Pap smear (beginning between the ages of 18 and 20)
- Clinical breast examinations every 6 months (beginning at age 30)
- Annual screening mammogram and breast MRI (beginning at age 30)
Men and Women
- Small bowel visualization every 2-3 years (beginning at age 18)
- Colonoscopy every 2-3 years (beginning at age 18)
- Upper endoscopy every 2-3 years (beginning at age 18)
- Annual pancreatic screening (beginning at age 30-35)
Treating Peutz-Jeghers Syndrome at UT Health Austin
Our genetic counselors help patients understand the benefits, limitations, and risks associated with undergoing genetic testing as well as how genetic testing affects healthcare management so that they can make informed decisions about their health. When discussing test results, our genetic counselors will work with you to develop a cancer screening plan specific to your needs.
Through our Multidisciplinary Case Conferences, we collaborate with our colleagues at The University of Texas at Austin and the Dell Medical School to stay informed of the latest research, diagnostic, and surveillance techniques, and we partner with existing providers in the Austin area to ensure we can successfully connect you with services recommended as part of your personalized cancer screening plan. We also provide you with community resources and help coordinate high-risk surveillance so that you have support every step of the way.
Care Team Approach
At UT Health Austin, we take a multidisciplinary approach to your care. This means you will benefit from the expertise of multiple specialists across a variety of disciplines caring for you in one place to avoid having to schedule multiple appointments with providers at locations all over the city. The Hereditary Cancer Screening and Risk Reduction care team includes clinical genetic counselors, medical oncologists, surgical oncologists, nurses, advanced practice providers, dietitians, social workers, and more as well as other members of the CaLM Care Team, who work together to help you get back to the things in your life that matter most to you. We also work alongside specialists across Cancer Fertility Preservation, Digestive Health, Women’s Health, Primary Care, Dermatology, and more.