Peutz-Jeghers Syndrome
Definition
- Mucocutaneous melanosis and gastrointestinal hamartomatous polyps
Diagnostic Criteria
- WHO criteria for diagnosis (any one of below)
- ≥3 hamartomatous polyps
- ≥1 hamartomatous polyps if family history of Peutz-Jeghers Syndrome (PJS)
- Prominent mucocutaneous melanosis if family history of PJS
- Prominent mucocutaneous melanosis and ≥1 hamartomatous polyp
- Mucocutaneous melanotic macules
- Most frequently on lips and oral mucosa
- Rarely on hands, feet and face
- Gastrointestinal hamartomatous polyps
- Most frequent in jejunum and ileum
- Less frequent in large intestine, stomach and duodenum
- Multilobated
- May have papillary or frond-like surface
- Arborizing smooth muscle
- Surrounds lobules of glands
- Glands composed of epithelial cells of same types as normally seen at site of polyp
- Generally cytologically bland epithelium
- Dysplasia, if present in small intestine or stomach, is only focal
- More commonly seen in colorectal polyps
- Epithelial misplacement (pseudoinvasion) may be seen in small intestinal polyps (Petersen 2000)
- Entrapped mucinous glands in submucosa, muscularis propria and occasionally subserosa
- Cytologically bland
- Entrapment of dysplastic epithelium has been reported
- Lacks desmoplastic response, accompanied by normal lamina propria
- No associated high grade dysplasia
- Sporadic non-syndromic polyps are quite rare, if they exist at all
- Strict definitions exclude some as mucosal prolapse polyps
- Careful clinical examination and history of associated cancers reveal nearly all others to be syndromic (Burkart 2007)
- Even cases of solitary Peutz-Jeghers polyps appear to be associated with increased cancer risk
- Increased incidence of a variety of cancers (see Clinical at left)
Robert V Rouse MD
Department of Pathology
Stanford University School of Medicine
Stanford CA 94305-5342
Original posting/updates: 12/27/09, 2/12/11, 11/13/11
