Peutz-Jeghers syndrome: a critical look at colonic Peutz-Jeghers polyps

Abstract

Peutz-Jeghers syndrome is an autosomal dominant condition characterized by gastrointestinal hamartomatous polyps. The pathologic identification of a Peutz-Jeghers polyp is integral to the diagnosis of this syndrome that often remains undiagnosed until after these polyps are identified. Histologically, Peutz-Jeghers polyps are characterized by a distinctive arborization of smooth muscle within the lamina propria. Colonic Peutz-Jeghers polyps, however, may mimic mucosal prolapse polyps or virtually any colonic polyp that undergoes prolapse. In this paper, we explore the morphological features of colonic Peutz-Jeghers polyps and the diagnostic challenges associated with these polyps. Colonic polyps from patients with Peutz-Jeghers syndrome were identified (n ¼ 34). The control cohort, included mucosal prolapse polyps (n ¼ 5), hyperplastic polyps (n ¼ 10) and tubular adenomas with prolapse (n ¼ 9), ganglioneuromatous polyps (n ¼ 2) and juvenile polyps (n ¼ 14). Intramucosal smooth muscle fibers were identified in all classes of polyps. Twenty-three of the 34 colonic Peutz-Jeghers polyps were characterized by lobulated clusters of colonic crypts. On immunohistochemistry, desmin-positive smooth muscle fibers were seen surrounding these lobules. This lobular organization of the crypts was not identified in mucosal prolapse polyps and hyperplastic polyps or tubular adenomas with prolapse; only one of the 14 juvenile polyps showed this pattern of reactivity on a desmin stain. Our data suggests that the histologic hallmark of colonic Peutz-Jeghers polyps is the lobular organization of the crypts, and that an arborizing pattern of smooth muscle proliferation is neither sensitive nor a specific marker of colonic Peutz-Jeghers polyps. The presence of desmin-positive smooth muscle fibers surrounding the lobules is a helpful diagnostic feature of colonic Peutz-Jeghers polyps, and facilitates the distinction of these polyps from non-Peutz-Jeghers polyps with prolapse-like changes.

Genetic and epigenetic profiling of a solitary Peutz–Jeghers colon polyp

“…Each of these categories is further subdivided into multiple histological subtypes. The Peutz–Jeghers (PJ) polyp constitutes a rare subtype with a characteristic histological appearance showing tree-like branching of smooth muscle cells and lobular organization of colonic crypts (Tse et al 2013). PJ polyps almost exclusively occur in the context of the Peutz–Jeghers syndrome, which is characterized by mucocutaneous hyperpigmentation and the development of multiple intestinal polyps in the first two to three decades of life.…”

Gastric Epithelial Polyps

“…Intestinal PJ polyps have characteristic features with an arborizing pattern of smooth muscle proliferating between mucosal epithelial components. 34 However, this is less pronounced in gastric PJ polyps ( Fig. 6).…”

Giant gastric polyp in peutz–Jeghers syndrome: Report of a case

“…Rarely, the polyps may also be adenomatous which may, therefore, lead us to the diagnosis of familial adenomatous polyposis syndrome, as this happens mostly with polyps arising in the colon with PJS. [ 3 ] In such cases, if there are no family history or external sign, the diagnosis of PJS may be difficult to establish. Melanotic spots in our case were unmissable, and hence, it was PJS despite the atypical histology.…”