Risks of Cancer and Cancer Death in Peutz-Jeghers and Juvenile Polyposis From Danish National Registry
Douglas K. Rex, MD, MASGE, reviewing Jelsig AM, et al. Gastroenterology 2023 Aug 31.
Peutz-Jeghers syndrome (PJS) and juvenile polyposis syndrome (JPS) are hamartomatous polyposis syndromes associated with increased cancer risk.
The Danish national health registries systematically record health outcomes for the entire Danish population, presenting a unique opportunity to study disease risk. In this study, 52 patients with PJS and 60 patients with JPS were matched with 50 controls each. The mean follow-up was 24 to 28 years.
The cancer risk was 6.2-fold higher in patients with PJS than in controls; the mean age at cancer diagnosis was 44 years for patients with PJS versus 62 years for the control group. Luminal GI cancers were only 36% of all cancers. Overall mortality was 3-fold higher in patients with PJS.
For patients with JPS, cancer risk was 3-fold higher, but overall mortality did not increase. Luminal GI cancers comprised 67% of all cancers, and 89% of cancer diagnoses occurred in patients with SMAD4 mutations, though SMAD4 mutations occurred in only 60% of all JPS cases.
COMMENTThese results underscore the need for multiple organ screening in patients with PJS beginning at a young age, whereas upper endoscopy and colonoscopy remain the key screening tests for JPS. Cancer risk is higher in patients with SMAD4 mutations in JPS than in patients with BMPR1A mutations.
Note to readers: At the time we reviewed this paper, its publisher noted that it was not in final form and that subsequent changes might be made.
CITATION(S)
Jelsig AM, Wullum L, Kuhlmann TP, Ousager LB, Burisch J, Karstensen JG. Risk of cancer in mortality in Peutz-Jeghers syndrome and juvenile polyposis syndrome – a nationwide cohort study with matched controls. Gastroenterology 2023 Aug 31. (Epub ahead of print) (https://doi.org/10.1053/j.gastro.2023.08.040)
