Introduction
Peutz-Jeghers Syndrome (PJS) is a rare hereditary gastrointestinal (GI) polyposis syndrome, characterised by the development of hamartomatous GI polyps and mucocutaneous pigmentation. The risk of GI and non-GI cancers in PJS is elevated, although the magnitude of the risk that has been reported has varied. A meta-analysis reported a rate of GI tract cancers of 57% by the age of 70 years (Hearle 2006). The malignant potential of Peutz-Jeghers polyps is poorly understood and controversial. Patients with PJS undergo surveillance to detect / prevent cancers and to prevent polyp-related complications of which intussusception is the most common.
Aims & Methods
The outcomes and long-term complications in patients with PJS attending a tertiary referral centre were assessed.
This is a retrospective review of electronic health care records. All patients with PJS were identified from the surveillance database at the Royal Liverpool University Hospital.
Results
27 patients were identified from the surveillance database. Patient were followed up for 219 patient years. The median follow up was 7 years (range 2-18). The median age was 36 (range 17-67).
258 endoscopic procedures were performed in the cohort. Of those, there were 82 gastroscopies, 80 colonoscopies, 8 sigmoidoscopies, 41 Small bowel Capsule endoscopies (SBCE), 27 antegrade single balloon enteroscopies (SBE), 4 antegrade double balloon enteroscopies (DBE), 2 retrograde SBEs, 1 retrograde DBEs and 13 surgically-assisted panenteroscopies. 44 MRI small bowels, and 14 CT enterographies were undertaken to assess the GI tract.
407 polyps were resected during the follow up period. Of these 60% (n=243/407) were removed by colonoscopy, 13% (n=52/407) by gastroscopy, 10% (n=41/407) by antegrade enteroscopy, 17% (n=71/407) by surgically assisted panenteroscopy. The median number of polyps removed per patient was 7 (range 0-102). There were two perforations following polypectomy. One occurred following a polypectomy of a caecal polyp undertaken at another centre requiring an emergency right hemicolectomy. A second occurred following removal of a 30mm polyp in the duodenum. This was managed successfully with endoscopic through-the scope clips.
The most common polyp-associated complication was small bowel intussusception. 74% (20) had at least one event, 30% (6) subsequently went on to have another intussusception event. The median age of first intussusception was 16 (range 8-38), the median size of polyps leading to intussusception was 25mm (range 15mm-32mm). Of the 20 patients with an intussusception, 70% (n=14/20) required emergency surgery. None of the hamartomatous polyps contained dysplasia. Gastric foveolar-type low grade dysplasia was seen in a duodenal biopsy containing gastric metaplasia. . No patients developed a GI malignancy. 5 extra-GI malignancies occurred (2 ovarian, 1 lung, 1 thyroid, 1 osteochondroma). All patients were referred for pancreatic cancer screening within an ethically approved study (EUROPAC). All females were referred to a local high risk breast screening unit.
Conclusion
The absence of any GI tract cancers in this cohort of PJS patients could reflect an overestimation of risk in previous studies, a potential protective effect of GI surveillance or the small cohort size. The absence of dysplasia in any of the GI hamartomas supports the position that the malignant potential of hamartomas themselves is low. All intussusceptions were caused by polyps > 15mm in size, supporting a strategy of small bowel surveillance and removal of polyps of this size.
Disclosure
No conflict of interest
