Risk Management for Peutz Jeghers Syndrome – breast (female)
Peutz Jeghers (PJS) is an autosomal dominant syndrome. It is characterised by multiple hamartomatous polyps in the GI tract with mucocutaneous pigmentation. The majority of patients with PJS have a STK11 gene mutation.
These recommendations are for those with PJS who have not been affected by a relevant cancer. The target group includes those with a pathogenic germline STK11 mutation, individuals at 50% risk of PJS and individuals with a clinical diagnosis of PJS. Individualised surveillance should be made for affected patients based on their own post treatment plan.
- Parents and siblings (not children) of a person with a clinical diagnosis of PJS who appears to be an isolated case, and no STK11 gene mutation is identified
|Cancer||PJS by age 40 yrs||PJS by age 60 yrs||PJS by age 70 yrs||General
Population by 80 yrs
Gastric cancer risk is 29% by 65y
Small bowel cancer risk is 13% by 65y
Cancer Risk Management Guidelines
Individualised surveillance is needed in families with a breast cancer diagnosed 35 years or under.
For an unaffected woman:
- Screening should start at 30 years
- Annual MRIs and mammograms (with or without ultrasound scans dependent on individual need) 30-50 years
- Annual mammograms (with or without ultrasound scans dependent on individual need) 50 years onwards
Pregnancy – ultrasound scans may be considered (no MMG or MRI)
Risk Reducing Medications
Careful assessment of risks and benefits with an experienced medical practitioner is required.
Risk Reducing Surgery
Consider bilateral risk reducing mastectomy followed by self-surveillance of the chest wall.
- Continuing from the age of 30y
- Gastroduodenoscopy and colonoscopy at least every 3y
- VCE, MRE (MR enterolysis) or Barium follow-through at least every 3y
Risk Reducing Medication
There is no evidence to support the use of risk-reducing medication outside clinical trials
Risk Reducing Surgery
- No preventative surgery is recommended
- Surgical management may be clinically indicated
Refer to a gynaecological oncologist or gynaecologist for annual pelvic examination and smear from 18 years or 25 years depending on expert group. Data on this is not robust so surveillance should be individualised based
on phenotype, expected age and incidence of disease, and family history.