Primary prevention
There is no known primary prevention for the development of disease manifestations of PJS.[13] If the family-specific STK11 mutation has been identified, the mutation status in the fetus can be determined through chorionic villus sampling or amniocentesis. In principle, preimplantation genetic testing could be performed to select for only the embryos that do not carry the family-specific mutation.
Secondary prevention
The major life-threatening complications to individuals are cancer and small bowel obstruction. Intestinal and extraintestinal polyp and cancer surveillance is strongly recommended because of the early age of onset of polyposis and cancer. Small bowel obstruction is one of the leading causes of surgery and can be minimized by clearance of polyps within the small bowel.[37][38][39]
Patients with PJS are reported to have a significantly increased lifetime risk of developing intestinal and extraintestinal malignancies when compared with the general population; the cumulative lifetime risk has been reported at 93%.[1] Endoscopic surveillance and surveillance for extraintestinal malignancy should be performed. Lifetime risks for specific cancers include breast (40% to 85%), pancreas (11% to 36%), ovary (21%), lung (7% to 17%), cervical (10% to 23%), and uterus (9%).[14] Male children and adolescents, and less commonly younger adults are also at risk for testicular cancer.[16] There is no evidence, as yet, to support the benefit of surveillance on the incidence or mortality of cancer.
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