Morphologic characterization of hamartomatous gastrointestinal polyps in Cowden syndrome, Peutz-Jeghers syndrome, and juvenile polyposis syndrome

Ruthy Shaco-Levy, Kory W. Jasperson, Katie Martin, Niloy Jewel Samadder, Randall W. Burt, Jian Ying, Mary P. Bronner

Research output: Contribution to journalArticle

17 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)39-48
Number of pages10
JournalHuman Pathology
Volume49
DOIs
StatePublished - Mar 1 2016
Externally publishedYes

Fingerprint

Multiple Hamartoma Syndrome
Peutz-Jeghers Syndrome
Polyps
Mucins
Smooth Muscle
Mucous Membrane
Juvenile polyposis syndrome
Hamartoma
Nerve Fibers
Ganglia

Keywords

  • Cowden syndrome
  • Hamartoma
  • Juvenile polyposis syndrome
  • Peutz-Jeghers syndrome
  • Polyp

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

Cite this

Morphologic characterization of hamartomatous gastrointestinal polyps in Cowden syndrome, Peutz-Jeghers syndrome, and juvenile polyposis syndrome. / Shaco-Levy, Ruthy; Jasperson, Kory W.; Martin, Katie; Samadder, Niloy Jewel; Burt, Randall W.; Ying, Jian; Bronner, Mary P.

In: Human Pathology, Vol. 49, 01.03.2016, p. 39-48.

Research output: Contribution to journalArticle

Shaco-Levy, Ruthy ; Jasperson, Kory W. ; Martin, Katie ; Samadder, Niloy Jewel ; Burt, Randall W. ; Ying, Jian ; Bronner, Mary P. / Morphologic characterization of hamartomatous gastrointestinal polyps in Cowden syndrome, Peutz-Jeghers syndrome, and juvenile polyposis syndrome. In: Human Pathology. 2016 ; Vol. 49. pp. 39-48.
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