Hamartomatous Polyposis Syndromes

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[level-membership-for-radiology-category] 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
• Polyps in PJS occur from stomach to rectum; mouth and esophagus spared

image SB involved in 95%

– Usually multiple, broad-based polyps
– Clustered appearance more than carpeting bowel
– Large polyps have characteristic lobulated surface
image Colorectal involvement 30%: Multiple, scattered, no carpeting
image Stomach/duodenal involvement 25%: Diffuse involvement

Imaging Recommendations

• Best imaging tool

image Double-contrast barium studies (multiple views)
image CT enterography

DIFFERENTIAL DIAGNOSIS

Familial Adenomatous Polyposis and Related Syndromes

• Hundreds or thousands of polyps carpeting colonic mucosa
• Tubular or tubulovillous; colorectal cancer risk 100%

Brunner Gland Hyperplasia (Hamartoma)

• Duodenal bulb and descending duodenum
• Hyperplasia: Multiple nodules (“Swiss cheese” pattern)
• Hamartomas simulate hamartomatous polyps
• Differentiated by associated thickened, irregular folds

Lymphoid Follicles (Hyperplasia)

• Innumerable tiny/small radiolucent nodules
• Usually generalized (duodenum, SB, colon)
• Distinguished by clinical history and generalized pattern

Metastases and Lymphoma (GI Tract)

• Rarely as numerous as in polyposis syndromes
• Metastases: May be polypoid, mimicking polyps
• Lymphoma: Small/bulky polypoid, mimicking polyps

image Thickened bowel wall and folds; adenopathy seen

PATHOLOGY

General Features

• Etiology

image Hereditary autosomal dominant (AD): PJS, MHS, only 25% of juvenile polyposis cases
image Nonhereditary: CCS, 75% of juvenile polyposis cases
• Genetics

image Spontaneous mutation of gene on chromosome 19 (PJS) and 10 (MHS)
image PTEN is a tumor suppressor gene
image Loss or mutation associated with variety of rare syndromes known collectively as PTEN hamartoma tumor syndromes

– Includes Cowden (MHS), and Bannayan-Riley-Ruvalcaba syndromes

Staging, Grading, & Classification

• Classification: Hamartomatous polyposis syndromes

image PJS: Autosomal dominant (AD)

– Hamartomatous GI tract polyps, mucocutaneous pigmentation of lips, oral mucosa, palms, and soles
– Risk for cancer (10%) of stomach, duodenum, colon
– Extra-GI tract cancers: Pancreas, breast, reproductive organs
image MHS (Cowden): AD genodermatosis

– Mucocutaneous: Facial papules, oral papillomas, keratosis
– Breast: Fibrocystic (50%), ductal-type cancer (30%)
– Thyroid (65%): Adenomas, goiter, follicular cancer
– Pancreatic ductal and intraductal papillary mucinous (IPMN) tumors
– Clinically: Bird-like face, high-arched palate
image Bannayan-Riley-Ruvalcaba syndrome

– AD inheritance
– GI tract hamartomas
– subcutaneous lipomas, macrocephaly, etc.
– Less prone to cancer
image Juvenile polyposis: 2types

– Isolated juvenile polyps of childhood (nonhereditary)
– JP of colon or entire GI tract (autosomal dominant)
image Cronkite-Canada:  Inflammatory polyps with ectodermal defects

Gross Pathologic & Surgical Features

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

Microscopic Features

• Extensive smooth muscle arborization of polyps

CLINICAL ISSUES

Presentation

• Most common signs/symptoms

image PJS: Pain, mucocutaneous pigmentation, melena
• Lab data: Hypochromic anemia, positive stool guaiac test

Demographics

• Age

image PJS (10-30), MHS (30-40), CCS (> 60) years
• Gender

image PJS (M = F), MHS (M < F), JP (M > F), CCS (M < F)
• Epidemiology

image PJS  = 1:10,000

Natural History & Prognosis

• PJS complications: Intussusception, SB obstruction, malignant neoplasms

image Bowel > breast > pancreas > reproductive tract
• Prognosis: 40% risk of cancer by age 40
• Intestinal polyposis syndromes encompass 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

Treatment

• Follow-up and surveillance; surgery for malignant neoplasms

DIAGNOSTIC CHECKLIST

Image Interpretation Pearls

• PJS: Small bowel polyps, mucocutaneous pigmentation
image
Axial CECT in a 4-year-old boy shows small bowel intussusception image proven at surgery to be due to hamartomatous polyps.

image
Axial CECT shows markedly dilated small bowel due to intussusception.
image
Air-contrast barium enema shows numerous polyps image in a patient with Peutz-Jeghers syndrome.
image
Upper GI series shows multiple polyps in the duodenum of a patient with Peutz-Jeghers syndrome.

SELECTED REFERENCES

1. Kobayashi, Y, et al. A tumor of the uterine cervix with a complex histology in a Peutz-Jeghers syndrome patient with genomic deletion of the STK11 exon 1 region. Future Oncol. 2014; 10(2):171–177.

 

Tsai, HL, et al. Rectal carcinoma in a young female patient with Peutz-Jeghers syndrome: a case report. Med Princ Pract. 2014; 23(1):89–91.

Lucci-Cordisco, E, et al. The growing complexity of the intestinal polyposis syndromes. Am J Med Genet A. 2013; 161A(11):2777–2787.

Gammon, A, et al. Hamartomatous polyposis syndromes. Best Pract Res Clin Gastroenterol. 2009; 23(2):219–231.

Hokama, A, et al. Telescope sign of intussusception in Peutz-Jeghers syndrome. Dig Liver Dis. 2009. [Epub ahead of print].

Huang, SC, et al. Pediatric juvenile polyposis syndromes: an update. Curr Gastroenterol Rep. 2009; 11(3):211–219.

Itaba, S, et al. Education and imaging. Gastrointestinal: Solitary Peutz-Jeghers-type hamartoma of the colon. J Gastroenterol Hepatol. 2009; 24(3):498.

Joshi, V. Peutz-Jeghers Syndrome: A Rare Cause of Gastric Outlet Obstruction. Clin Gastroenterol Hepatol. 2009. [Epub ahead of print].

Yano, T, et al. Vascular, polypoid, and other lesions of the small bowel. Best Pract Res Clin Gastroenterol. 2009; 23(1):61–74.

Cho, GJ, et al. Peutz-Jeghers syndrome and the hamartomatous polyposis syndromes: radiologic-pathologic correlation. Radiographics. 1997; 17(3):785–791.

Harned, RK, et al. The hamartomatous polyposis syndromes: clinical and radiologic features. AJR Am J Roentgenol. 1995; 164(3):565–571.

Buck, JL, et al. Peutz-Jeghers syndrome. Radiographics. 1992; 12(2):365–378.

[/level-membership-for-radiology-category][not-level-membership-for-radiology-category] 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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