Peutz Jeghers Syndrome

Peutz-Jeghers syndrome (PJS) is another polyposis syndrome with associated malignancy risk, not only in the colon, but also in other organs. The classic clinical feature of PJS is the pigmented macules that frequently occur on the lips and buccal mucosa, though they can appear in other areas including the fingertips and perianal region. It is important to realize that these pigmented spots may fade, though the buccal mucosal lesions tend to persist. The syndrome is due to a mutation in the STK11/LKB1 gene, which can be found in about 50 to 75% of individuals. Importantly, about 50% of patients come from families with histories compatible with PJS, whereas the other patients are presumably new mutation carriers. Genetic testing is available.

Unlike FAP and AAPC, the polyps in PJS are hamar-tomatous and, therefore, distinguish PJS as a hamartoma-tous polyposis syndrome. Hamartomas are growths of tissue that can be of endodermal, mesodermal, and/or ectodermal origin, but with an epithelial covering typical of the bowel location where the polyp is found. Hamartomas in PJS histologically appear as a collection of complex glands with normal appearing epithelium and interdigitating muscular bundles. Although patients with PJS at are higher risk for GI cancers, the origin of these cancers is not entirely clear, though they are presumed to arise from the hamar-tomatous polyps. Hamartomas have been shown to develop foci of adenomatous changes as well as progressing directly to a carcinoma. Distinct adenomas and hamar-

tomas have also been found in the large intestine of PJS patients. Polyps are most frequent in the SB, but can develop anywhere in the GI tract as follows: (1) SB, 96%; (2) colon, 27%; (3) stomach, 24%; and (4) rectum, 24% (McGarrity et al,2000).

Patients with PJS typically have several potential complications from hamartomatous polyps. Not only is malignant transformation a concern, but the polyps can also ulcerate, bleed, infarct, and intussuscept. After the age of 30 years, malignant complications become the major concern; by the age of 65 years, over 90% of patients will have a malignancy. The most common GI cancers include colon, with a lifetime risk of 39%, pancreatic, with a lifetime risk of 36%, gastric, and SB (Giardiello et al, 2000). Non-GI malignancies include breast (54% lifetime incidence), ovarian (21% lifetime incidence), Sertoli cell tumors (9% lifetime incidence with 10 to 20% becoming malignant), and lung (15% lifetime incidence).

Because of the associated morbidity of large polyps in PJS and the potential malignant transformation, patients with PJS require regular surveillance as outlined in Tables 95-1 and 95-2. The high rate of extra-intestinal cancers also deserves attention with regular examination of potentially involved organs. Specific symptoms require special attention and should lead to an aggressive workup to exclude a malignant cause. Many of the surveillance recommendations in polyposis syndromes are empiric and risk-based rather than evidence-based, as appropriate evidence is difficult to obtain in rare conditions. The role of potentially valuable surveillance methods, such as endoscopic ultrasound for pancreatic cancer for instance, has not been examined in this clinical scenario.

Management of polyps in PJS can be clinically challenging. We recommend regular surveillance for GI tract polyps as outlined in the tables. When polyps are encountered on routine endoscopy, we remove all of them if possible. When the colon polyp burden is too difficult to control endoscopically, then referral for subtotal colectomy should be offered. Polyps in the SB can pose a different challenge. If polyps are particularly large (> 1 cm) or causing symptoms, we recommend removal either endoscopically, if amenable, or surgically. In the latter case, consideration for intraoperative endoscopy should be given.

Constipation Prescription

Constipation Prescription

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