Screenings for people with Peutz-Jeghers syndrome
Peutz-Jeghers syndrome (PJS) is an inherited condition, caused in most cases by changes in the STK11 gene, in which noncancerous growths called hamartomatous polyps form in the stomach and intestines, often in childhood or adolescence. Children often have small dark spots on and around the lips and mouth. People with PJS have a high lifetime risk of cancer, most often of the gut, pancreas, cervix, ovary and breast. (MedlinePlus Genetics) The NCI notes that males are prone to Sertoli cell tumours of the testes. (NCI PDQ, 2025) This page covers screening checks only, not polyp removal, surgery, medicines or treatment.
The main guidance
In Europe, the European Hereditary Tumour Group (EHTG) published a PJS guideline in 2021 that covers genetics, the gut, pancreas, breast and gynaecological checks; for the gut and pancreas it endorses the 2019 European Society of Gastrointestinal Endoscopy (ESGE) and International Cancer of the Pancreas Screening (CAPS) Consortium recommendations. (EHTG guideline, 2021)(CAPS Consortium, 2019) In the UK, the British Society of Gastroenterology and partners covered PJS in their 2020 hereditary colorectal cancer guidelines. (BSG/ACPGBI/UKCGG, 2020) In the US, the American College of Gastroenterology (ACG) guideline dates from 2015. (ACG guideline, 2015) All three rate the evidence for PJS as low.
Checks the guidelines list
| Check | Start | How often | Source |
|---|---|---|---|
| Upper endoscopy and colonoscopy | 8; if normal, again at 18 | Every 3 years (BSG, ACG); every 1 to 3 years (EHTG) | (BSG/ACPGBI/UKCGG, 2020)(ACG guideline, 2015)(EHTG guideline, 2021) |
| Small bowel: video capsule endoscopy or MRI | 8 | Every 3 years (BSG, ACG); every 1 to 3 years (EHTG) | (BSG/ACPGBI/UKCGG, 2020)(ACG guideline, 2015)(EHTG guideline, 2021) |
| Breast MRI, then mammogram added (women) | MRI 25 to 30; mammogram 30 (EHTG); 25 (ACG) | Yearly | (EHTG guideline, 2021)(ACG guideline, 2015) |
| Clinical breast exam (women) | 25 | Every 6 to 12 months | (EHTG guideline, 2021) |
| Pancreas: MRI/MRCP and endoscopic ultrasound | 40 (CAPS); 30 (ACG) | Every 12 months if normal (CAPS); every 1 to 2 years (ACG) | (CAPS Consortium, 2019)(ACG guideline, 2015) |
| Gynaecological exam with cervical cytology (women) | 25 | Yearly | (EHTG guideline, 2021)(ACG guideline, 2015) |
| Testicular exam (males) | Birth to teenage years | Yearly; ultrasound if something is felt | (ACG guideline, 2015) |
Stomach, small bowel and colon. The British guideline suggests that in a person with PJS and no symptoms, upper endoscopy, colonoscopy and video capsule endoscopy start at 8, and that the small bowel is checked every 3 years. If the first upper endoscopy and colonoscopy are normal they can be deferred until 18; if polyps are found they are repeated every 3 years. Anyone with symptoms should be checked earlier. (BSG/ACPGBI/UKCGG, 2020) The European guideline gives the same start age, with intervals of 1 to 3 years set by what is found, and says either MRI or video capsule endoscopy can be used for the small bowel. (EHTG guideline, 2021) The main early problem is intussusception, where the bowel folds in on itself around a large polyp; the British guideline puts the risk in childhood at 50 to 68 percent, which is why checks start at 8. (BSG/ACPGBI/UKCGG, 2020) Decisions about removing polyps are made by the specialist team; this page does not cover them. See screening colonoscopy: what to expect.
Breast. The European guideline puts the lifetime breast cancer risk for women with PJS at about 19 to 54 percent and recommends breast awareness from 18, a clinical breast exam every 6 to 12 months from 25, a yearly contrast breast MRI from 25 to 30, a yearly mammogram plus yearly MRI from 30 to 50, and a yearly mammogram, with MRI considered for dense breasts, from 50 to 75. After 75, checks are decided case by case. It says this should take place at expert centres within a study or registry. (EHTG guideline, 2021) See breast cancer screening and dense breasts.
Pancreas. The CAPS Consortium lists all people with PJS as eligible for pancreatic surveillance regardless of family history, starting at 40, with MRI/MRCP and endoscopic ultrasound at baseline and a 12-month interval if nothing concerning is found. (CAPS Consortium, 2019) The European guideline puts the lifetime risk at 11 to 55 percent, endorses the CAPS recommendations and says patients should be told the benefits and harms are not yet established. (EHTG guideline, 2021) See pancreatic cancer screening.
Cervix and ovaries. The European guideline recommends counselling about gynaecological cancer risks and warning symptoms at 18 to 20, and a yearly gynaecological exam from 25. It focuses on a rare cervical adenocarcinoma (adenoma malignum) that is not caused by high-risk HPV, so it recommends a speculum exam and cervical cytology even when the HPV test is negative, plus a pelvic exam with transvaginal ultrasound if a pelvic mass is suspected. It says CA-125 testing is not indicated. (EHTG guideline, 2021) The ACG lists a yearly pelvic exam, pelvic or transvaginal ultrasound and Pap smear from 25. (ACG guideline, 2015) See cervical cancer screening and ovarian cancer screening.
Testes. The ACG says about 9 percent of males with PJS develop Sertoli cell tumours of the testes, and lists a yearly testicular exam from birth to the teenage years, with ultrasound if anything is felt or signs of feminisation appear. (ACG guideline, 2015) See testicular cancer screening.
Lungs. The ACG notes the lung cancer risk is raised but that no specific screening has been recommended; it suggests a yearly chest X-ray or CT could be considered in people who smoke. (ACG guideline, 2015) See lung cancer screening.
Checks for relatives
PJS is inherited in an autosomal dominant pattern. In about half of cases a person inherits the STK11 change from an affected parent; the rest are new changes with no family history. (MedlinePlus Genetics) Once someone carries the change, each of their children has a 50 percent chance of inheriting it. (MedlinePlus) The ACG says that once the family's gene change is found, other family members should have testing for that change, so surveillance can be planned for those who carry it. (ACG guideline, 2015) The European guideline says finding the change makes predictive testing of at-risk relatives possible, and that STK11 testing is warranted in children and adolescents with the typical spots around the mouth or with one PJS polyp. (EHTG guideline, 2021) See family history and screening and how to collect your family health history.
When to contact a provider
MedlinePlus, Peutz-Jeghers syndrome, when to contact a medical professional: (MedlinePlus)
Contact your provider for an appointment if you or your child has symptoms of this condition. Severe abdominal pain may be a sign of an emergency condition such as intussusception.
Routine age-based screening
PJS checks are added to, not instead of, the routine screenings for your age and sex; see screenings by age and gender.
Where they differ:
- Gut check intervals. Every 3 years in the British and ACG guidelines; every 1 to 3 years, set by what is found, in the European guideline. (BSG/ACPGBI/UKCGG, 2020)(ACG guideline, 2015)(EHTG guideline, 2021)
- Small bowel test. The British and ACG guidelines name video capsule endoscopy; the European guideline accepts MRI or capsule endoscopy. (BSG/ACPGBI/UKCGG, 2020)(ACG guideline, 2015)(EHTG guideline, 2021)
- Pancreas. The ACG starts at 30, every 1 to 2 years; CAPS starts at 40, yearly if normal; the European guideline limits it to expert centres within a study or registry. (ACG guideline, 2015)(CAPS Consortium, 2019)(EHTG guideline, 2021)
- Breast. The ACG lists a yearly MRI and/or mammogram from 25; the European guideline starts with MRI at 25 to 30 and adds a mammogram from 30. (ACG guideline, 2015)(EHTG guideline, 2021)
- Ovaries. The ACG lists a yearly ultrasound and says CA-125 is probably not helpful; the European guideline uses ultrasound only when a pelvic mass is suspected and says CA-125 is not indicated. (ACG guideline, 2015)(EHTG guideline, 2021)
Your doctor decides what your result means for you.
Questions people ask
When do gut checks start in Peutz-Jeghers syndrome?
At 8 in people without symptoms. The 2020 British guideline and the 2015 ACG guideline list upper endoscopy, colonoscopy and video capsule endoscopy at 8, with the small bowel checked every 3 years. If the first upper endoscopy and colonoscopy are normal, they can wait until 18. The 2021 European (EHTG) guideline gives the same start age with intervals of 1 to 3 years. (BSG/ACPGBI/UKCGG, 2020) (ACG guideline, 2015) (EHTG guideline, 2021)
How is the small bowel checked?
By video capsule endoscopy, where a small swallowed camera takes pictures, or by MRI of the small bowel. The British guideline says both are better tolerated than the old barium test, find clinically important polyps about equally well and avoid repeated radiation. (MedlinePlus) (BSG/ACPGBI/UKCGG, 2020) (EHTG guideline, 2021)
Are breast checks needed?
For women, yes. The European guideline lists breast awareness from 18, a clinical breast exam every 6 to 12 months from 25, a yearly breast MRI from 25 to 30, adding a yearly mammogram from 30. The ACG lists a yearly breast MRI and/or mammogram from 25. (EHTG guideline, 2021) (ACG guideline, 2015)
Is the pancreas checked?
The CAPS Consortium says everyone with PJS is eligible for pancreatic surveillance, whatever their family history, starting at 40, with MRI and endoscopic ultrasound. The European guideline endorses this but says it should be done at expert centres within a study or registry, because the benefits and harms are not yet established. (CAPS Consortium, 2019) (EHTG guideline, 2021)
Should relatives be tested?
Yes, once the gene change in the family is known. PJS is autosomal dominant, so each child of an affected person has a 50 percent chance of inheriting it. The ACG says other family members should then have testing for that specific change, so surveillance can be planned for those who carry it. (MedlinePlus) (ACG guideline, 2015) (EHTG guideline, 2021)
Related
- Screenings for people with familial adenomatous polyposis
- Screenings for people with Cowden syndrome
- Lynch syndrome screening and colonoscopy ages
- Pancreatic cancer screening
- Family history: when screening starts earlier
- Testicular cancer screening
- Screenings by age and gender
- Questions to ask your doctor