Guidelines for men and women with Peutz-Jeghers syndrome (STK11 mutations)
Breast and ovarian cancer screening for women
- Clinical breast exam every 6 months beginning at age 25
- Annual breast MRI and mammogram beginning at age 25
- Annual pelvic exam and PAP smear beginning at age 18-20
- Consider transvaginal ultrasound beginning at age 18-20
Cancer screnning for men
Guidelines for men and women
- Colonoscopy every 2-3 years beginning in late teens
- Upper endoscopy every 2-3 years beginning in late teens
- Small bowel CT, MRI or video capsule endoscopy starting at age 8-10 with a followup by age 18, and then every 2-3 years
- Magnetic resonance cholangiopancreatography with contrast or endoscopic ultrasound every 1-2 years beginning age 30-35
People with a mutation in STK11 are encouraged to discuss the pros and cons of annual screening with their health care provider. Pancreatic cancer screening is done using two types of medical procedures:
- Magnetic resonance cholangiopancreatography (MRCP) is a special type of imaging MRI that is used to look at the pancreas, liver, gallbladder, bile duct and pancreatic duct.
- Endoscopic ultrasound (EUS) involves passing a tiny scope with an attached ultrasound probe down the esophagus to the stomach. This allows doctors to look closely at the pancreas.
Experts recommend the following:
- Consider beginning pancreatic cancer screening beginning at age 30-35 years (or 10 years earlier than the earliest pancreatic cancer diagnosis in the family, whichever is earlier).
- Screening should begin with annual MRCP and/or EUS (both ideally performed at a center with expertise).
People with a STK11 mutation may also be eligible for pancreatic cancer screening clinical trials. Visit our research study page for links to clinical trials for early detection of pancreatic 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.