Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

STEP1 > GASTRO: BOARDS AND BEYOND > Flashcards

GASTRO: BOARDS AND BEYOND Flashcards

1
Q

What condition is characterized by endometrial cancer, colon cancer, and a family history of endometrial and ovarian cancer?

A

Lynch syndrome (hereditary nonpolyposis colorectal cancer).

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
1
Q

What is the “3-2-1 Rule” in relation to Lynch syndrome?

A

Requires 3 or more Lynch-associated cancers (2 of whom are first-degree relatives) over 2 or more generations, with at least 1 person affected by age 50.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What type of genetic inheritance pattern does Lynch syndrome follow?

A

Autosomal dominant.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What is the underlying cause of Lynch syndrome?

A

A DNA mismatch repair gene defect leading to microsatellite instability.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

How does Lynch syndrome affect the development of cancer?

A

It causes dysplasia in multiple organs that becomes malignant faster than typical lesions.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

At what age do patients with Lynch syndrome typically develop cancers compared to the general population?

A

Patients develop cancers at a much younger age than would typically occur.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What role do genetic counseling and screening play in managing Lynch syndrome?

A

They are crucial for early detection and prevention strategies in affected individuals and families.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What gene mutation is associated with familial adenomatous polyposis (FAP)

A

Mutations in the APC gene.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What is the primary cancer risk associated with familial adenomatous polyposis?

A

Increased risk of colorectal cancer.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Why is “polyposis” included in the name familial adenomatous polyposis?

A

Because the APC gene leads to the development of multiple colonic polyps.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Does familial adenomatous polyposis increase the risk of breast or ovarian cancers?

A

No, it does not increase the risk of breast or ovarian cancers

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

How many colon polyps do patients with familial adenomatous polyposis typically develop?

A

Patients can develop hundreds to thousands of colon polyps.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

At what age do patients with familial adenomatous polyposis typically start developing polyps?

A

Often by adolescence.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What is Gardner’s syndrome?

A

An autosomal dominant condition characterized by adenomatous polyposis and soft-tissue tumors.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Which gene mutation is responsible for Gardner’s syndrome?

A

APC gene mutation on chromosome 5.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

How many colonic polyps do patients with Gardner’s syndrome typically develop?

A

Hundreds of colonic polyps.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What is the malignancy potential of the colonic polyps in Gardner’s syndrome?

A

Although benign, they have a strong malignancy potential.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What is the risk of developing colorectal cancer for patients with Gardner’s syndrome or familial adenomatous polyposis (FAP) by age 50?

A

100% chance if the colon is not removed.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What are some extra-colonic features associated with Gardner’s syndrome?

A

Osteomas, congenital hypertrophy of retinal pigment epithelium (CHRPE), and epidermoid cysts.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Where do osteomas commonly develop in patients with Gardner’s syndrome?

A

In the mandible.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Where do epidermoid cysts typically occur in Gardner’s syndrome?

A

In locations such as the face, scalp, and extremities.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

How does classic familial adenomatous polyposis (FAP) differ from Gardner’s syndrome?

A

FAP is restricted to the colon and does not involve the development of epidermoid cysts, fibromas, or osteomas.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What common genetic mutation is found in both Gardner’s syndrome and familial adenomatous polyposis (FAP)?

A

APC gene mutation.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Why are the terms Gardner’s syndrome and FAP sometimes used interchangeably?

A

Because some FAP patients have limited extra-colonic features similar to those in Gardner’s syndrome.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

In a patient with osteomas and cysts, which syndrome is the more accurate diagnosis: Gardner’s syndrome or classic FAP?

A

Gardner’s syndrome is the better answer.

25
Q

Is a variant of Lynch syndrome (hereditary non-polyposis colorectal cancer) with sebaceous skin tumors.

A

Muir-Torre syndrome

26
Q

Is a variant of familial adenomatous polyposis with malignant central nervous system tumors.

A

Turcot’s syndrome

27
Q

What is juvenile polyposis syndrome (JPS)?

A

An autosomal dominant condition involving numerous hamartomatous polyps in the GI tract, primarily in the colon and rectum.

28
Q

What types of polyps are most commonly found in JPS?

A

Hyperplastic, adenomatous, and hamartomatous polyps.

29
Q

At what age can polyps in JPS begin to develop?

A

As early as the first decade of life.

30
Q

What does the term “juvenile” refer to in juvenile polyposis syndrome?

A

It refers to the histological characterization of the polyps, not the age of the patient.

31
Q

What is the most common clinical manifestation of JPS?

A

Rectal bleeding

32
Q

What are some other symptoms that can occur in JPS?

A

Prolapsing polyps, pain, diarrhea, and iron-deficiency anemia

33
Q

What is the risk of colorectal cancer in patients with JPS by age 35?

A

About 20%, increasing to 68% by age 60.

34
Q

What is the lifetime risk of gastric cancer in patients with JPS?

A

20% to 30%

35
Q

What is required for a clinical diagnosis of JPS?

A

At least one of the following:

  • Five or more juvenile polyps in the colorectum
  • Multiple juvenile polyps throughout the GI tract
  • Any number of juvenile polyps in someone with a known family history of the disease.
36
Q

How is JPS managed?

A

Routine screening for colorectal cancer with colonoscopy and gastric cancer with upper endoscopy.

37
Q

Is an autosomal dominant syndrome associated with hamartomatous polyps of the GI tract, mucosal hyperpigmentation, and increased risk of cancer. Although this patient has hamartomatous lesions of the GI tract, he does not have the pigmented macules seen in more than 95% of PJS.

A

Peutz-Jeghers syndrome (PJS)

38
Q

What is a common site for distant metastases of colon cancer?

A

The liver.

39
Q

Why does colon cancer commonly metastasize to the liver?

A

Because of the portal venous drainage from the intestinal tract to the liver.

40
Q

Besides the liver, what are other potential sites of metastasis for colon cancer?

A

The lungs and peritoneum.

41
Q

How do most carcinomas, including colonic adenocarcinoma, primarily spread?

A

Via lymphatics.

42
Q

What are the alternative routes of metastasis for colon cancer?

A

Through the bloodstream (hematogenous spread via the portal system), direct extension of the tumor, and seeding of peritoneal fluid.

43
Q

What are the most common sites of metastasis for colon cancer?

A

Regional lymph nodes, the liver, lungs, and the peritoneum.

44
Q

Intraperitoneal seeding refers to the spread of tumors via intraperitoneal fluid. Ovarian tumors in women often spread through this mechanism. Colon cancer can spread via intraperitoneal seeding. When it does, lesions appear on the outside of the liver, since this is the area in contact with intraperitoneal fluid. In addition to the exterior of the liver, seeding from colon cancer often leads to abdominal lesions in specific areas with stasis of peritoneal fluid (normally this fluid moves with position and bearing down). These include

A

The pouch of Douglas, the right lower quadrant mesentery, and the peritoneum of the sigmoid colon.

45
Q

Develops in the setting of cirrhosis and chronic infection by hepatitis B or C.

A

A primary liver cancer or hepatocellular carcinoma

46
Q

Occurs in immunocompromised patients (e.g., recipients of solid organ transplants, allogeneic hematopoietic cell transplants, etc.).

A

Systemic or invasive aspergillosis

47
Q

What is the progression of mutations in colon cancer called?

A

The adenoma-carcinoma sequence (chromosomal instability pathway).

48
Q

Which gene is the first to mutate in the adenoma-carcinoma sequence?

A

The APC gene (a tumor suppressor gene).

49
Q

What is the significance of a mutation in the KRAS gene?

A

It is a proto-oncogene mutation found in the majority of hyperplastic colon polyps and is essential for neoplastic progression.

50
Q

What is the third mutation that cells acquire to become malignant in colon cancer?

A

A mutation in the p53 gene (another tumor suppressor gene).

51
Q

What does the presence of all three mutations (APC, KRAS, p53) indicate?

A

The cells are malignant.

52
Q

How does familial adenomatous polyposis (FAP) affect the adenoma-carcinoma sequence?

A

n FAP, germline mutations in the APC gene are inherited, leading to numerous polyps due to the mutation being present from the start.

53
Q

What characterizes a sporadic polyp in colon cancer?

A

A negative family history for colon cancer and no inherited gene mutations.

54
Q

What deficiency is this woman experiencing in the context of carcinoid syndrome?

A

Niacin deficiency

55
Q

What symptoms are associated with elevated serotonin levels in carcinoid syndrome?

A

Flushing, palpitations, abdominal pain, and diarrhea

56
Q

What is the precursor molecule to serotonin?

A

Tryptophan

57
Q

How much of tryptophan is normally utilized for serotonin production?

A

About 1%

58
Q

In carcinoid syndrome, what percentage of tryptophan may be used for serotonin synthesis?

A

Up to 70%

59
Q

What deficiency can result from the increased use of tryptophan for serotonin synthesis?

A

Tryptophan deficiency

60
Q

How is niacin (vitamin B3) produced in the body?

A

From tryptophan

61
Q
A

STEP1 (8 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions