Colon tumor - Peutz-Jeghers syndrome

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Colon tumor

Familial polyposis syndromes

Peutz-Jeghers syndrome

Reviewers: Charanjeet Singh, M.D. (see Reviewers page)
Revised: 15 October 2011, last major update September 2011
Copyright: (c) 2003-2011, PathologyOutlines.com, Inc.

Clinical features
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● Rare; autosomal dominant with variable penetrance, usually diagnosed in 20’s
● Diagnostic criteria: (a) 3+ histologically confirmed Peutz-Jeghers polyps, (b) any Peutz-Jeghers polyp with a family history, (c) characteristic melanotic mucocutaneous pigmentation (lips, oral mucosa, genitalia, digits, palms and soles) with a family history or (d) Peutz-Jegher polyp and characteristic mucocutaneous pigmentation
● Hamartomatous polyps are present throughout GI tract excluding esophagus
● All patients have small intestinal polyps; 25% involve stomach and colon
● Increased risk of cancer from adenomatous polyps other than classic Peutz-Jeghers polyps; however, no apparent increased risk from solitary polyps (Int J Colorectal Dis 2003 ;18:33)
● Very high risk of cancer overall (Gastroenterology 2000;119:1447) with half dying of cancer by age 60
● Almost all patients have sex-cord tumor / tumorlet with annular tubules in ovary or testis
● Also associated with mucinous tumors, adenoma malignum of cervix and carcinomas of breast, pancreas, lung and uterus (Gut 2010;59:975)
● Large polyps may cause intussusception and GI bleeding

Gross description
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● Large, lobulated and pedunculated polyps resembling adenomas

Gross images
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Various images-pages 3, 7, 9-11

Micro description
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● Polyps have broad bands of muscularis mucosa smooth muscle fibers in superficial mucosa, thicker centrally than peripherally, with “Christmas tree” appearance at low power
● Disorganized glands resemble epithelium adjacent to polyp
● Also Paneth cells
● Epithelial structures may herniate into bowel wall (pseudoinvasion, more common in small intestine)
● No atypia

Micro images
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Figure 1: CT of small intestine shows multiple masses and intussusception; 2/3: core of smooth muscle arising from muscularis mucosa with extensive treelike branching; 4: smooth muscle actin

From small intestine

Page 3

Molecular description
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● Mutation at 19p13.3 (STK11/LKB1 gene) in 60%

Additional references
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● eMedicine, OMIM 175200, PubMed Health

End of Colon tumor > Familial polyposis syndromes> Peutz-Jeghers syndrome

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