Do Sporadic Peutz-Jeghers Polyps Exist? Experience of a Large Teaching Hospital

Abstract

Most types of sporadic gastrointestinal (GI) polyps vastly outnumber their syndromic counterparts. In contrast, the incidence of sporadic Peutz-Jeghers polyps (PJP) is unknown. We examined all potential PJP seen at our hospital over a 22-year (y) period to assess the incidence of sporadic PJP. The pathology database of a large hospital was searched for "Peutz-Jeghers polyp(s)," yielding 121 polyps from 38 patients. The polyps were reviewed by 3 pathologists to confirm the diagnosis. Clinical information to confirm or refute a diagnosis of Peutz-Jeghers syndrome (PJS) was collected. Of the 102 polyps included after histologic review, 94 polyps arose in patients meeting the World Health Organization criteria for PJS. These PJS polyps were eliminated from further analysis. Clinical information was obtained for the remaining 8 patients with potential "sporadic" PJP (1 to 50 y; mean=14 y; median=4 y). Of the 8 potential sporadic PJP, only 3 polyps from 3 patients had unequivocal PJP histologic features, all from the small intestine. All 3 patients had clinical histories suggesting syndromic PJP although they did not meet World Health Organization criteria, that is, 2 developed pancreatic cancer, 1 had bilateral "ovarian cystic masses" and a glomus tympanicum tumor, and 1 had strong family history of GI malignancies. The 5 remaining patients each had a colonic polyp with features suggestive, but not definitely diagnostic of, PJP. In these cases, prolapse lesions could not be excluded. One patient had a history of high-grade dysplasia in a tubulovillous adenoma in the colon at 53 years, but no family cancer history. Another had a family GI cancer history. Another had a history of pituitary adenoma at age 39, and the last had ductal breast carcinoma diagnosed 4 years before the discovery of the polyp. Our findings suggest that if sporadic PJP exist, they are extremely rare. Moreover, our data suggest that individuals with a single PJP may have a cumulative lifetime risk of cancer similar to those with the syndrome.

Peutz-Jeghers syndrome: Diagnostic and therapeuticapproach

“…PJS-type polyps do not have specific endoscopic features and can only reliably be distinguished from other types of polyps by histopathology. The unique PJS polyp pathology is best appreciated in PJS small intestine polyps [25] . The histopathology of PJS-associated gastric polyps can be similar to hyperplastic gastric polyps.…”

Diagnostic difficulty in Peutz–Jeghers syndrome

“…11 It is impossible to differentiate endoscopically a characteristic hamartomatous polyp in a case of SPJ from other polyps, requiring a microscopic study. 12 The polyps grow in the first decade of life, and most patients become symptomatic between 10-30 years of age. In a series of cases, the most common gastrointestinal symptoms were: obstruction caused by intussusception, or luminal occlusion by polyps (43%), abdominal pain (23%), acute or chronic rectal bleeding (14%) and polyp extrusion through rectum (7%).…”

Solitary Peutz-Jeghers Polyp in a Paediatric Patient

“…Although several cases of solitary PJP have been reported in the literature [3,4,5,6,7,8,9,10,11,12], it is still unclear whether solitary PJP represents an incomplete form of PJS or a different entity [2, 6]. We report the case of a paediatric patient with a solitary PJP in whom the other features of PJS were lacking.…”

“…It is linked to a variety of intestinal and extraintestinal neoplasms with a cumulative lifetime risk for cancer of 93%, 18 times greater than expected in the general population [2]. According to the WHO criteria the diagnosis of PJS can be made when the presence of mucocutaneous pigmentation, bowel hamartomatous polyps and family history of PJS are found simultaneously [3].…”