When intussusception occurs it involves the small intestine in >95% cases (polyps preferentially occur in jejunum).r Cumulative intussusception risk 15% at age 10, 50% at age 20, 65% at age 30, 77% at age 40 and 84% at age 50.r Polyps size of >15 mm in diameter an important risk factor for intussusception. Commencing screening for small intestinal polyps from 8 years of age is in keeping with international guidelines.r
There is good evidence for the use of VCE in PJS patients rather than BaFT.rr The radiation dose is considerably reduced, it detects more polyps that are <1cm, and is better tolerated. BaFT should be avoided in children. While further studies are needed, and there is some conflicting data, three studies have indicated that MRE and VCE are largely equivalent in detecting clinically significant polyps.rrr
Individuals with or at risk of PJS should be advised to seek help quickly if they have any symptoms suggestive of intussusception/bowel obstruction (eg. acute onset of vomiting, severe abdominal pain with bloating).
The mechanism of carcinogenesis in PJS remains unknown. Hamartomas are currently not considered precancerous lesions. One study detected no luminal GI cancers in a small cohort of patients that had regular surveillance and polypectomies raising the possibility that surveillance may reduce the risk for bowel cancer.r Further studies are required to evaluate the effect of GI surveillance on the development of GI cancers in PJS.
Bilateral risk reducing mastectomy reduces cancer risk by at least 90% (depending on the operation performed) in BRCA mutation carriers.
Risk-reducing salpingo-oophorectomy (RRSO) reduces breast cancer risk by 53% in BRCA1 and BRCA2 mutation carriers. Maximal breast cancer risk reduction achieved by RRSO is predicted when surgery occurs by age 40 years or whilst premenopausal. It should be noted, however, that RRSO is not a recommended risk management strategy for females with PJS. Although no specific studies have been done, a similar breast cancer risk-reduction would be expected from RRSO for women with PJS.
MRI+/-MMG is the preferred screening technique due to its high sensitivity. MRI detects tumours which are smaller and more likely to be node negative than MMG. MRI has a recall rate (requiring further investigation and/or biopsy) of 15% for initial screening, which decreases with subsequent rounds of screening to <10%.
There is no evidence to date that early detection of breast cancer is associated with better prognosis and survival BRCA1 and BRCA2 mutation carriers or in females with PJS. However, for women who do not choose risk reducing surgery, surveillance is strongly recommended.
Tamoxifen and raloxifene have been shown to reduce the risk of breast cancer in high risk women. To date studies have not included enough BRCA1 or BRCA2 mutation carriers or females with PJS to determine if it is effective for primary prevention in this population. Tamoxifen use is associated with a reduction in contralateral breast cancer risk by >67% in BRCA2 mutation carriers; such benefit is stronger if ovaries are still intact. Similar benefit might be expected in females with PJS. In view of the potential side effects associated with tamoxifen/raloxifene, risk-reducing medications should be discussed with an experienced medical professional to determine the relevant risks and benefits in an individual mutation carrier. See Cancer Australia Risk-reducing medication resource.
There is no evidence to support screening of the cervix for PJS associated cancers (adenoma malignum). However, annual endocervical smears and clinical vaginal examination by an experienced gynaecological oncologist (preferably) or gynaecologist is recommended by most groups.
Ovary (sex cord tumours)
Females are at increased risk of sex cord tumours of the ovary (SCTAT), which may be benign or malignant, and occur from infancy, but are most common in the fourth and fifth decades. Hyperoestogenism may occur. There is no evidence regarding any type of surveillance.
Intestinal-type intraductal papillary mucinous neoplasms have been identified as a precursor lesion for pancreatic cancer. There is suggestion that this precursor lesion may also play a role in the development of pancreatic cancer in PJS.r As the benefit of screening for pancreas cancer with endoscopic ultrasound and/or MRI and the management of early lesions requires further evaluation, any screening should only be done as part of a clinical research protocol.
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 developing Sertoli cell tumours of the testis, most commonly in childhood, which may present with feminisation.