This document discusses several hamartomatous polyposis syndromes: Peutz-Jeghers syndrome is characterized by gastrointestinal hamartomas and mucocutaneous pigmentation. Patients have an increased risk of gastrointestinal cancers and other malignancies. Cowden's disease (multiple hamartoma syndrome) involves hamartomas of various tissues and an increased risk of breast, thyroid, and GI cancers. Juvenile polyposis typically presents in childhood and can involve the entire GI tract. Cronkhite-Canada syndrome presents in older adults and is characterized by diffuse GI polyposis, skin abnormalities, diarrhea, and weight loss. Radiologic findings help identify and characterize polyps in these various syndromes.

1. The Hamartomatous Polyposis
Syndromes:

2. A colorectal polyp is any mass
projecting into the lumen of the
bowel.
Polyps are further categorized
according to
i. Size.
ii. Character of their attachment
to bowel wall.
iii. Cellular architecture.
iv. Histological appearance.
General introduction

3.  POLYPS WITH LARGER MASS HAVE
GREATER VOLUME OF NEOPLASTIC
CELLS ,HENCE A HIGHER
LIKELIYHOOD OF HARBORING
CANCER.
POLYP SIZE(mm)
<5
6-15
16-25
16-36
37-42
>42
NUMBER
5137
3581
1069
516
219
677
% WITH INVASIVE
CARCINOMA
0
2.2
18.6
42.8
63.9
78.9

4. Depending upon attachment to
bowel wall, polyps can be
1) Pedunculated:
with stalk
2) Sessile: without
stalk

5. Polyp architecture
Adenomatous
Tubular
Tubulovillous
Villous
Non adenomatous
Hyper plastic
Hamartomatous
Inflammatory polyps

6. Adenomatous polyps:
Are common
These lesions are dysplastic, so should
be treated as premalignant.
Based on extent to which dysplastic
epithelium is organized these can be

7. Tubular:
 Found any where in
colon.
 Approx 65%-85% of
all adenomatous
polyps.
 Most often
pedunculated.
 Have less atypia,
associated with
malignancy in only
5% of cases.
Pedunculated tubular
adenoma

8. Tubulovillous
10%-25% of adenomatous
polyps
 Commonly found in the rectal
area.
Are at intermediate risk
(22%) of malignancy

9. Villous:
most commonly occur in the
rectal area.
Least common about 5%-10%.
Most often sessile.
Generally have severe atypia or
dysplasia, may harbour cancer
in up to 40%.
They tend to be larger than the
other two types.
1 cm sessile villous
adenoma of the sigmoid
colon.

10. Associated with the highest morbidity and
mortality rates of all polyps.
Can cause hyper secretory syndromes :
hypokalemia and profuse mucous discharge
Can harbor carcinoma in situ or invasive
carcinoma more frequently than other
adenomas.

11. Polyposis syndromes
 Familial adenomatous polyposis (FAP).
-Gardner syndrome.
-Turcot syndrome.
 Hereditary nonpolyposis colorectal cancer (HNPCC).
 Peutz-Jeghers syndrome.
 Juvenile polyposis syndome.
 Cowden disease.
 Hyperplastic polyposis syndrome.
 Cronkite-Canada syndrome.
 Bannayan-Riley-Ruvalcaba Syndrome.

12. Hamartomatous polyposis
syndromes
Juvenile
polyposis
syndome.
Peutz-
Jeghers
syndrome.
Cowden
disease.
Bannayan-
Riley-
Ruvalcaba
Syndrome.
Cronkite-
Canada
syndrome.

13. • Of greater importance is the frequent
occurrence of other extraintestinal
manifestations, including several forms of
malignant disease.
• Because of this frequent association with
both gastrointestinal and nongastrointestinal
malignant tumors, early and accurate
diagnosis of these syndromes is essential.

14. Peutz-Jeghers Syndrome
• Peutz-Jeghers syndrome is an inherited
condition characterized by a unique type of
gastrointestinal hamartoma, mucocutaneous
pigmentation, neoplasms outside the
alimentary tract, and an increased risk for
gastrointestinal adenocarcinoma.

15. Clinical Features
• Autosomal dominant inheritance
• Affecting both sexes equally
• Mucocutaneous pigmentation,Brown or
bluish-black macules occur most commonly
on the lips and buccal mucosa.

16. Gastrointestinal Malignant Neoplasms
• Patients with Peutz-Jeghers syndrome are at
increased risk of developing adenocarcinoma of
the gastrointestinal tract. The majority of these
carcinomas are located in the stomach,
duodenum, and colon.
• Patients with Peutz-Jeghers syndrome are also at
risk for
• extraintestinal malignant tumors. the most
commonly implicated tumors involve the
pancreas, breast, and reproductive organs.

18. Radiologic Features
• Peutz-Jeghers hamartomas are found
throughout the alimentary tract with the
exception of the esophagus.
• The jejunum and ileum are most frequently
involved, followed by the duodenum, colon,
and stomach.
• Individual polyps vary in size and may be
either sessile or pedunculated.

23. • Intussusception induced by small-bowel
hamartomas is an important feature. Transient
intussusceptions may, on occasion, be
observed during contrast studies, sonography,
and CT

25. Multiple Hamartoma Syndrome
(Cowden’s Disease)
• The multiple hamartoma syndrome is a
genodermatosis characterized by hamartomas and
neoplasms of ectodermal, mesodermal, and
endodermal origin affecting multiple organs and organ
systems.
• principally occurs in whites.
• The majority of the cases are diagnosed in patients
around 30-40 years old.
• The most important and consistent clinical features are
mucocutaneous lesions associated with a variety of
thyroid gland abnormalities, breast carcinoma, and
hamartomatous polyposis of the gastrointestinal tract.

27. Radiologic Features
• The gastrointestinal polyps characteristically
are multiple, small, sessile, and have a
segmental or diffuse distribution.
• They are most commonly located in the
rectosigmoid colon, followed, in
decreasingfrequency, bythe stomach,
duodenum, small bowel, and esophagus

31. Juvenile Polyposis
• Juvenile polyposis is a rare disease.
• The majority of patients present in the second
decade.
• 1)According to Jass and colleagues , the criteria
for establishing the diagnosis of juvenile
polyposis include six or more juvenile polyps in
the colon or rectum. (2) juvenile polyps
throughout the gastrointestinal tract, and/or (3)
any number ofjuvenile polyps in a patient with a
family history ofjuvenile polyposis.

33. • Congenital anomalies such as hydrocephalus
and pulmonary arteriovenous malformations
have a higher prevalence in the nonfamilial
cases.
• Carcinoma of the stomach, duodenum, and
pancreas has also been reported in patients
with juvenile polyposis of the entire
gastrointestinal tract.

34. Cronkhite-Canada Syndrome
• Cronkhite-Canada syndrome is not familial
and occurs in older adults. The average age of
onset is 60 years.
• Clinical Features:These patients commonly
have abdominal pain, a severe, protein-losing
diarrhea, weight loss, and anorexia.
Ectodermal abnormalities of the skin, hair, and
nails generally follow the onset of
gastrointestinal symptoms.

35. Radiologic Features
• Cronkhite-Canada syndrome polyps are
usually small and are most commonly sessile
rather than pedunculated.
• They are almost always found distributed
throughout the stomach, small bowel, and
colon.
• In the stomach, small- to moderate- sized
polyps carpet the mucosal surface and are
usually superimposed on thickened rugal folds

37. • The small bowel from the duodenum to the
terminal ileum may contain multiple, small
polyps. The colon and rectum are commonly
diffusely involved, but carpeting of the
mucosa is not as extensive as in the stomach.

39. • Thank you