Polyps Flashcards
A 19-year old female was admitted with abdominal pain and was found to have evidence of intussusception on imaging. She was brought to the operating room where a short segment of small bowel was removed containing multiple polyps as seen here. She has other family members with this condition as well.
This patient is at increased risk of all of the following malignancies EXCEPT:
a. Breast
b. Pancreatic
c. Thyroid
d. Colon
e. Esophageal
C
The polyp shown is typical of a Peutz-Jeghers polyp, which are hamartomatous with a prominent smooth muscle infrastructure in the lamina propria. Patients with this autosomal dominant condition are at increased risk of breast, pancreatic, colon, esophageal, ovarian sex cord and Sertoli testicular tumors. There is no increased risk of thyroid cancer as one may see in FAP, where an adenomatous polyp rather than hamartomatous polyp would have been seen.
All of the following are true regarding Peutz-Jeghers Syndrome patients EXCEPT:
a. Disease is autosomal recessive
b. Risk of both GI and non-GI malignancy is markedly increased
c. The typical pathologic finding is the hamartomatous polyp.
d. The pigmented spots on the lips and buccal mucosa frequently fade over time.
A
it is AD
The SKT11 gene on chromosome 19 is linked to
A. Juvenile polyposis. B. Familial adenomatous polyposis C. Peutz-Jeghers syndrome. D. Intestinal ganglioneuromatosis. E. Cowden's syndrome.
C
Which of the following polyposis syndromes does not confer an increased risk of gastrointestinal cancers?
A. Turcot's syndrome B. Peutz-Jegher's syndrome C. Juvenile polyposis syndrome D. Cowden's syndrome E. Cronkhite-Canada syndrome
E
Turcot’s syndrome is a polyposis syndrome characterized by adenomatous polyposis and brain tumors. Due to the adenomatous nature of the tumors, there is an increased risk of colon cancer.
Peutz-Jeghers syndrome is an autosomal dominant-inherited polyposis syndrome with hamartomas. One of the hallmarks of this disease is mucocutaneous pigmentation that may be noted on the mouth, nose, lips, and buccal mucosa. These polyps may cause intestinal obstruction, intussusception, and acute or chronic bleeding. Cancer of the colon, duodenum, jejunum, and ileum has been reported, and adenomatous epithelium may also develop within these hamartomatous polyps.
Juvenile polyposis syndrome may also occur and is associated with an increased risk of colon cancer. Youngsters with single polyps without the polyposis syndrome are generally not at increased risk for cancer.
Cronkhite-Canada syndrome is an acquired, nonfamilial syndrome with diffuse gastrointestinal polyposis, dystrophic changes in the fingernails, alopecia, cutaneous hyperpigmentation, diarrhea, weight loss, abdominal pain, and malnutrition. The polyps are hamartomatous but there may be foci of adenomatous tissue. However, malignant degeneration is the exception rather than the rule. The malabsorption syndrome is progressive in most cases and the prognosis is poor.
Cowden’s syndrome is a syndrome of multiple hamartomatous polyps of the stomach, small intestine, and colon, along with orocutaneous hamartomas and fibrocystic disease and cancer of the breast. Nontoxic goiter and thyroid cancer may also occur. Cowden’s syndrome is inherited in an autosomal dominant fashion. There does not appear to be an increased risk of gastrointestinal cancer.
A 17-year-old boy with a history of anxiety disorder is concerned about his family history of colon polyps. His father developed colonic adenomas in his 70s. His paternal uncle developed polyps in his 60s, and his sister had colon polyps in her mid-40s. He is very anxious to learn how he might decrease his risk of colon adenomas. Which of the following has not been shown to decrease the risk of colon adenomas?
A. High-fiber diet B. Low-carbohydrate diet C. Calcium supplementation D. Physical activity E. Aspirin therapy
B
A low-carbohydrate diet has not been shown to decrease the risk of colonic adenomas. Factors that have consistently been shown to protect against adenoma development include a diet high in dietary fiber, a higher level of physical activity, high calcium intake, high folate intake, use of nonsteroidal anti-inflammatory drugs, hormone replacement therapy, and selenium supplementation. A significant lower risk for colorectal adenomas or cancers and lower cancer-associated mortality have been found for users of Aspirin and nonsteroidal anti-inflammatory drugs.
A patient is transferred from another hospital with severe diarrhea, abdominal pain, weight loss, electrolyte disorder. On physical examination, he appears well developed and well nourished, and his vital signs are stable, but mucous membranes are dry. He states that he was fine prior to the onset of symptoms 6 weeks ago and has never noticed gross blood in the stool. The most notable findings on physical examination include alopecia, onycholysis, and shedding of some of the nails. He has noticed increased pigmentation on the patient’s upper arms and thighs. The patient’s brother had colon cancer. The patient’s medical records from the previous hospital indicate that he had upper and lower endoscopies that showed multiple gastric and colonic polyps; analysis of the multiple biopsy specimens that were taken indicated that these were hyperplastic in nature. The most likely diagnosis is:
A. Cowden's syndrome B. Gardner's syndrome C. Muir-Torre syndrome D. Peutz-Jeghers syndrome E. Cronkhite-Canada syndrome
E
Cronkhite-Canada syndrome is a rare, sporadic syndrome of GI polyposis, mucocutaneous hyperpigmentation, alopecia, malabsorption, and nail dystrophy. Diarrhea, nail changes, abdominal pain, and weight loss are the most common symptoms. Alopecia occurs in more than 95% of patients and involves loss of both scalp and body hair. Hyperpigmentation occurs in 85% of patients and more commonly involves the upper extremities. Death can occur in about 50% of the patients as a result of malnutrition from the diarrhea. Aggressive nutritional support by total parenteral nutrition can lead to complete resolution of symptoms.
Which polyposis syndrome is characterized by a mutation of the PTEN gene?
a. Juvenile polyposis syndrome
b. Peutz-Jegher syndrome
c. Banayan-Ruvalcaba-Riley syndrome
d. Gardner syndrome
e. Turcot syndrome
C
Peutz Jeghers polyp histology
hyperplasia of smooth m with an arborizing pattern
Juvenile polyps histology
inflammation with cystic dilation of the crypts
See learning difficulties in what 2 polyposis syndromes
PJS and PTEN hadmartomas
Juvenile polyposis adenamatous or hamartomatous polyps?
hamartomatous
Bannayan-Riley Rucalcaba
Part of Pten hamartoma tumor syn
genital hyperplasia
Cowden Syndrom
Part of PTEN
Macrocephaly, aural keratosis, mucocutaneous lesiosn
Peutz Jegher
AD, STK11 (LKB1)
Start screening at 8 yoa or earlier if symptomatic
FAP SCREENING
10-12 yoa or earlier if symptomatic
