title: Morphologic characterization of hamartomatous gastrointestinal polyps in Cowden syndrome, Peutz-Jeghers syndrome, and juvenile polyposis syndrome.
abstract: The morphologic features of the gastrointestinal polyps in hamartomatous polyposis syndromes are poorly defined. Our aim was to better characterize the gastrointestinal hamartomas in these syndromes. A blinded review was performed regarding many histologic features for every polyp. The study included 15 Cowden syndrome, 13 Peutz-Jeghers (PJS), 12 juvenile polyposis (JuvPS) patients, and 32 cases of sporadic hamartomatous polyps. A total of 375 polyps were examined. Cowden syndrome polyps were characteristically colonic, sessile, small, without surface erosion, and showing mildly inflamed fibrotic lamina propria with smooth muscle proliferation and lymphoid follicles. They showed the least degree of cystic glands and had no thick mucin. Uncommon but specific features were ganglion cells and nerve fibers within the lamina propria and mucosal fat. PJS polyps were typically of small or large bowel origin, often exophytic, seldom eroded, with inflamed edematous and fibrotic lamina propria and dilated cystic glands filled with often thick mucin. All PJS polyps showed smooth muscle proliferation, frequently widespread. The polyps of JuvPS were typically colonic, large, exophytic, eroded, with strikingly edematous, fibrotic markedly inflamed lamina propria, cystic glands filled with frequently thick mucin, and the least degree of smooth muscle proliferation. Nonsyndromic hamartomatous polyps were similar to JuvPS polyps; however, they were more often colonic, were smaller, showed more widespread smooth muscle proliferation, and were less likely to contain thick mucin. In conclusion, we were able to define the characteristic hamartomatous polyp for each hamartomatous polyposis syndrome. Awareness to these features may aid in the diagnosis of these rare syndromes.
authors.affiliation: Department of Pathology, Soroka Medical Center, Ben-Gurion University of the Negev, Beer Sheva 84101, Israel; Department of Pathology & ARUP Laboratories, University of Utah, Salt Lake City, UT 84112; Huntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112. Electronic address: rsl@bgu.ac.il.
authors.forename: Ruthy
authors.initials: R
authors.lastname: Shaco-Levy
authors.affiliation: Huntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112; Genetic Counseling, University of Utah, Salt Lake City, UT 84112.
authors.forename: Kory W
authors.initials: KW
authors.lastname: Jasperson
authors.affiliation: Genetic Counseling, University of Utah, Salt Lake City, UT 84112.
authors.forename: Katie
authors.initials: K
authors.lastname: Martin
authors.affiliation: Huntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112; Department of Internal Medicine, University of Utah, Salt Lake City, UT 84112; Division of Gastroenterology, University of Utah, Salt Lake City, UT 84112.
authors.forename: N Jewel
authors.initials: NJ
authors.lastname: Samadder
authors.affiliation: Huntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112; Department of Internal Medicine, University of Utah, Salt Lake City, UT 84112; Division of Gastroenterology, University of Utah, Salt Lake City, UT 84112.
authors.forename: Randall W
authors.initials: RW
authors.lastname: Burt
authors.affiliation: Huntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112; Department of Internal Medicine, University of Utah, Salt Lake City, UT 84112; Division of Epidemiology, University of Utah, Salt Lake City, UT 84112.
authors.forename: Jian
authors.initials: J
authors.lastname: Ying
authors.affiliation: Department of Pathology & ARUP Laboratories, University of Utah, Salt Lake City, UT 84112; Huntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112.
authors.forename: Mary P
authors.initials: MP
authors.lastname: Bronner
mesh_terms: D014408:Biomarkers, Tumor / Q000032:analysis / Q000235:genetics; D001706:Biopsy; D049109:Cell Proliferation; D003111:Colonic Polyps / Q000737:chemistry / Q000473:pathology*; D003937:Diagnosis, Differential; D005820:Genetic Testing; D006223:Hamartoma Syndrome, Multiple / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D044483:Intestinal Polyposis / Q000151:congenital* / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D009077:Mucins / Q000032:analysis; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D010580:Peutz-Jeghers Syndrome / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D011237:Predictive Value of Tests; D012042:Registries; D014589:Utah
chemical_list: D014408:Biomarkers, Tumor; D009077:Mucins
keywords: Cowden syndrome; Hamartoma; Juvenile polyposis syndrome; Peutz-Jeghers syndrome; Polyp