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Hamartomatous Polyposis Syndromes


KEY FACTS

Terminology

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

Imaging

  • CT enterography is best imaging tool (multiplanar, contrast enhanced)

  • Best diagnostic clue

    • Cluster of small filling defects in small bowel (SB) with intussusception

  • Peutz-Jeghers syndrome (PJS)

    • 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

    • PJS: Pain, mucocutaneous pigmentation, melena

  • PJS complications

    • Intussusception, SB obstruction, malignant neoplasms

      • –

        Bowel > breast > pancreas > reproductive tract

      • –

        Prognosis: 40% risk of cancer by age 40

  • Intestinal polyposis syndromes encompass wide spectrum of diseases with considerable overlap

    • Gene mutations and phenotypes

    • Polyp histology; disease severity; extraintestinal manifestations

    • Blurs distinction between polyposis syndromes

This 28-year-old man has known Peutz-Jeghers syndrome (PJS). Film from a small bowel follow-through shows some of the hundreds of small polyps
, presumably hamartomas, throughout his bowel.

Axial CT section in the same patient shows a large mass
causing partial obstruction of the duodenum
, which is markedly dilated. The mass proved to be a metastasis from a testicular nonseminomatous germ cell tumor.

Another CECT section from the same patient shows 2 segmental, nonobstructing intussusceptions
, probably due to the hamartomatous polyps.

Another CECT section in the same patient shows some of the innumerable small bowel polyps
. 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)

Definitions

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

IMAGING

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