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8 May 2013 - Case of the Week #272

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Case of the Week #272

Clinical History:

A 50 year old man had multiple polyps in the jejunum, which were biopsied.

Endoscopic image:

Micro images:

What is your diagnosis?


Hamartomatous (Peutz-Jeghers) polyp


Peutz-Jeghers polyps (hamartomatous polyps) are supported by broad bands of muscularis mucosa smooth muscle, which is thicker centrally, and resembles a Christmas tree at low power (see Small bowel chapter). The polyp has superficial columnar and goblet cells, but Paneth and endocrine cells at its base.

Peutz-Jeghers polyps are large, pedunculated polyps of the gut almost always seen in association with Peutz-Jeghers syndrome (Am J Surg Pathol 2007;31:1209). This rare autosomal dominant disorder is usually diagnosed at ages 20-30, with hamartomatous polyps in the small bowel (100%), stomach and colon (25%), and associated adenomatous lesions that may give rise to adenocarcinoma of the stomach, large or small bowel; adenoma malignum of the cervix, ovarian mucinous tumors, and carcinoma of the breast, lung and pancreas. The syndrome is also associated with sex-cord tumor with annular tubules (almost all patients) and melanotic pigmentation of the digits, genitalia, lips, oral mucosa, palms and soles.

Peutz-Jeghers syndrome is caused by mutations in STK11/LKB1, a novel serine threonine kinase (Nat Genet 1998;18:38, Nature 1998;391:184), which may play a role in cell polarity (Genes Cells 2012;17:737).

The differential diagnosis includes invasive carcinoma, because polypoid epithelial misplacement, present in 10%, may resemble malignancy (Am J Surg Pathol 2000;24:34). Recommended treatment is screening and polypectomy of the entire small bowel, plus lifelong cancer screening of the GI tract, breast, lung, ovaries, pancreas and testis (World J Gastroenterol 2009;15:5397), due to the markedly elevated cancer risk, mainly for pancreatic and cervical cancers (Dig Liver Dis 2013 Feb 15 [Epub ahead of print]).

Nat Pernick, M.D., President
and Palak Thakore, Associate Medical Editor
PathologyOutlines.com, Inc.
30100 Telegraph Road, Suite 408
Bingham Farms, Michigan (USA) 48025
Telephone: 248/646-0325
Email: NatPernick@Hotmail.com
Alternate email: NatPernick@gmail.com