Hamartomatous Polyposis Syndromes

Published on 09/08/2015 by admin

Filed under Radiology

Last modified 09/08/2015

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 Cluster of small filling defects in small bowel with intussusception

• Peutz-Jeghers syndrome (PJS)

image Jejunum and ileum > duodenum > colon > stomach

TOP DIFFERENTIAL DIAGNOSES

• Familial adenomatous polyposis and related syndromes
• Brunner gland hyperplasia (hamartoma)
• Lymphoid follicles (hyperplasia)
• Metastases and lymphoma (GI tract)

PATHOLOGY

• Sessile/pedunculated; carpet-like, clustered, or scattered polyps

CLINICAL ISSUES

• Most common signs/symptoms

image PJS: Pain, mucocutaneous pigmentation, melena
• PJS complications

image Intussusception, SB obstruction, malignant neoplasms

– Bowel > breast > pancreas > reproductive tract
– Prognosis: 40% risk of cancer by age 40
• Intestinal polyposis syndromes encompass a wide spectrum of diseases with considerable overlap

image Gene mutations and phenotypes
image Polyp histology; disease severity; extraintestinal manifestations
image Blurs distinction between polyposis syndromes
image
(Left) This 28-year-old man has known Peutz-Jeghers syndrome (PJS). A film from a small bowel follow-through shows some of the hundreds of small polyps image, presumably hamartomas, throughout his bowel.

image
(Right) Axial CT section in the same patient shows a large mass image causing partial obstruction of the duodenum. The mass proved to be a metastasis from a testicular nonseminomatous germ cell tumor.
image
(Left) Another CT section from the same patient shows 2 segmental, nonobstructing intussusceptions image, probably due to the hamartomatous polyps.

image
(Right) Another CT section in the same patient shows some of the innumerable small bowel polyps image. As illustrated by this case, some patients with PJS may develop malignant tumors, not just of the bowel, but also of the breast, pancreas, or reproductive tract.

TERMINOLOGY

Abbreviations

• Peutz-Jeghers syndrome (PJS)
• Multiple hamartoma (Cowden) syndrome (MHS)
• Juvenile polyposis (JP)
• Cronkhite-Canada syndrome (CCS)

Synonyms

Definitions

• Spectrum of hereditary and nonhereditary polyposis syndromes characterized by gastrointestinal (GI) tract polyps and other associated lesions

IMAGING

General Features

• Best diagnostic clue

image PJS: Cluster of small filling defects in small bowel (SB) with intussusception
• Location

image PJS: Jejunum and ileum > duodenum > colon > stomach
image MHS + JP: Most polyps in rectosigmoid colon
image CCS: Stomach (100%), colon (100%), SB (50%)
• Size

image Varied
• Morphology

image Sessile or pedunculated polypoid lesions
image Pattern: Carpet-like, clustered, or scattered

Radiographic Findings

• Fluoroscopic-guided double-contrast studies

image Multiple, variably sized radiolucent filling defects

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