Individuals should be advised to seek emergency medical attention if they have any symptoms suggestive of intussusception/bowel obstruction (e.g. acute onset of vomiting, severe abdominal pain with bloating).
Intussusception occurs in the small intestine (commonly in the jejunum) in >95% cases.r Cumulative intussusception risk is 15% at age 10, 50% at age 20, 65% at age 30, 77% at age 40 and 84% at age 50.r Polyps of >15 mm have a higher risk of causing intussusception. Commencing screening for small intestinal polyps from 8 years of age is in keeping with international guidelines.r VCE is preferred to BaFT in PJS patients as the radiation dose is considerably reduced, it detects more polyps that are <1cm and is better tolerated.r
The mechanism of carcinogenesis in PJS remains unknown. Hamartomas are currently not considered precancerous lesions. One study detected no luminal cancers in a small cohort of patients having regular surveillance and polypectomies, raising the possibility that surveillance may reduce colorectal cancer risk.r Further studies are required to evaluate the effect of GI surveillance on the development of GI cancers in PJS.
Bilateral risk reducing mastectomy can reduce breast cancer risk by at least 90% in high-risk women (including women with PJS).
MRI is the preferred screening technique due to its high sensitivity. MRI detects smaller tumours which are more likely to be node negative than MMG. MRI recall rate (requiring further investigation and/or biopsy) is 15% for initial screening, which decreases to <10% with subsequent rounds of screening. Mammography screening is not recommended before age 40 years in females with PJS.
There is no evidence to date that early detection of breast cancer is associated with better prognosis and survival in females with PJS. However, for women who do not choose risk reducing surgery, surveillance is strongly recommended.
Tamoxifen and raloxifene reduce the risk of breast cancer in high risk women. However, studies have not included enough females with PJS to determine efficacy in this population. Tamoxifen reduces contralateral breast cancer risk by >67% in BRCA2 pathogenic variant carriers and benefit is stronger if ovaries are in situ. Similar benefit might be expected in females with PJS. The risks and benefits should be discussed with an experienced medical professional. See COSA - Medications to lower the risk of breast cancer: clinician guide.
There is no evidence to support screening of the cervix for PJS associated cancers (adenoma malignum). However, annual endocervical smears and pelvic examination by an experienced gynaecological oncologist (preferably) or gynaecologist is recommended.rr Women need specific screening for this form of cervical cancer, as it is not detected by the screening method used by the national cervical screening program (which tests for human papillomavirus). The request form should highlight the diagnosis of PJS to the reporting pathologist so that they are alerted to the possibility of adenoma malignum.
Ovary (sex cord tumours)
Females are at increased risk of sex cord tumours of the ovary (SCTAT), which may be benign or malignant, can occur from infancy, but are most common in the fourth and fifth decades. Hyperoestrogenism may occur. Recommendations for annual abdominal examination to assess for abdominal mass are based on low level evidence.r There is no evidence for routine abdominal imaging.
PJS individuals do have an increased lifetime risk of pancreatic cancer, however there is no strong evidence pancreatic cancer screening is beneficial. Pancreatic cancer screening should only be performed as part of a clinical research protocol.r
There may be an increased risk of lung cancer, especially for males. Advice should be given about the benefits of avoiding cigarette smoking.
Males may be at increased risk of large-cell calcifying Sertoli-cell tumours (LCCSCTs) of the testis. These most commonly present in childhood and may present with feminisation.r Annual clinical assessment should include testicular examination, growth and height velocity, and signs of feminisation, including gynaecomastia. There is no evidence to support routine testicular ultrasound. If signs of LCCSCTs are identified, refer to a paediatric endocrinologist.r