Disease

Age of onset

Gene

Mode of inheritance

# Polyps

Polyps distribution

Histology

Non-neoplastic polyps

Inflammatory “cap” polyposis

40 - 50

-

Sporadic

1 to >100

Predominantly in distal colon, but can be throughout the colon

Hyperplastic crypts, inflammatory infiltrate and fibromuscular obliteration of the lamina propria, with a white cap of fibrinopurulent exudate

Hyperplastic polyposis

>40

-

Familial cluster

5 - 100, mostly 40 - 100

Abundance throughout the colon, sparing of stomach or small bowel

Hyperplastic polyps, sessile serrated adenomas

Adenomatous polyposis

Classical Familial adenomatous polyposis (FAP)

10 - 20

APC

AD

>100

Colorectum (100%), gastric fundic gland polyps, duodenum, and periampullary polyps

Adenoma ( tubular adenomas identical to sporadic adenomas)

Attenuated FAP (AFAP)

20 - 30

APC

AD

<100

Colorectum, Gastroduodenum and periampullary polyps

Adenoma (same as FAP)

MUTYH- associated

polyposis (MAP)

40 - 60

MUTYH

AR

20 - 100

Colorectum

Gastric and duodenal polyps

Adenoma (tubular adenomas, with a minority of tubulovillous adenomas and few hyperplastic polyps)

Hamartomatous polyposis

Juvenile polyposis syndrome

<20

SMAD4,

BMPR1A, ENG

AD

5 to 200

More common in the colorectum. The chance in the stomach and small intestine are <20%

Mucous-filled, edematous stroma, dilated glands, inflammatory cell infiltration, and absence of smooth-muscle proliferation

Peutz-Jeghers syndrome

10 - 30

STK11 gene

AD

1 - 20

Most common in small intestine (100%), less common in colorectum and stomach (20%). Also seen extra-intestinal tract such as respiratory, uterus, or bladder

“Christmas tree” appearance at low power, Hamartomatous polyps supported by broad bands of muscularis mucosa smooth muscle

Cowden

syndrome

9 - 20

PTEN

AD

Multiple

Throughout the GI tract

Hamartomatous polyps, histologically, similar to the juvenile polyps, frequently containing ganglion cells

Bannayan-

Ruvalcaba-

Riley syndrome

Early in life

PTEN

AD

Multiple

Majority are identified in the distal ileum and colon, though they may be seen throughout the GI tract

Hamartomatous polyps, histologically similar to the JPS-type polyp

Cronkhite-

Canada

syndrome

50 - 60

--

Sporadic

5 to numerous

Predominantly in stomach and colon (90%), followed by small bowel (80%) and rectum (67%), usually spare esophagus

Hamartomatous polps exhibiting glandular hyperplasia, cystic dilation, mucosal edema