GI19 Flashcards

1
Q

Colorectal Cancer: Epidemiology

A
  • 3rd most common cancer
  • 3rd most deadly in U.S.
  • Pt. > 50 y/o
  • 25% have family history
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2
Q

Colorectal Cancer: Genetic types

A
  • Familial Adenomatous Polyposis (FAP)
  • Gardner’s syndrome
  • Turcot’s syndrome
  • Hereditary Nonpolyposis Colorectal Cancer (HNPCC/Lynch syndrome)
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3
Q

Colorectal Cancer: Additional Risks

A
  • Irritable bowel
  • Tobacco
  • Large villous adenomas
  • Juvenile polyposis syndrome
  • Peutz-Jeghers syndrome
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4
Q

Colorectal Cancer: Locations

A

1-Rectosigmoid
2-Ascending
3-Descending

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5
Q

Colorectal Cancer: Presentation

- Ascending

A
  • Exophytic mass
  • Iron deficiency anemia
  • Weight loss
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6
Q

Colorectal Cancer: Presentation

- Descending

A
  • Infiltrating mass
  • Partial obstruction
  • Colicky pain
  • Hematochezia
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7
Q

Colorectal Cancer: Screening

A

Patients > 50 y/o

  • Colonoscopy or
  • Occult blood test
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8
Q

Colorectal Cancer: Barium Enema X-ray

A

“Apple core” lesion

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9
Q

Colorectal Cancer: Tumor marker

A

CEA tumor marker:

  • Good for monitoring recurrence
  • NOT useful for screening
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10
Q

Familial Adenomatous Polyposis (FAP).

A
  • Autosomal-Dominant
  • APC gene mutation
  • Chr 5
  • 2-hit hypothesis
  • 100% progress to CRC
  • Thousands of polyps
  • Pancolonic
  • Always involves rectum
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11
Q

Gardner’s syndrome.

A
  • FAP + Osseous and Soft tissue tumors

- Congenttal hypertrophy of retinal pigment epithelium

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12
Q

Turcot’s syndrome.

A

-FAP + malignant CNS tumor

“TURcot = TURban”

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13
Q

Hereditary Nonpolyposis Colorectal Cancer (HNPCC/Lynch syndrome).

A
  • Autosomal-Dominant
  • DNA mismatch repair gene
  • 80% progress to CRC
  • Proximal colon always involved
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14
Q

APC gene mutation.

A

FAP

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15
Q

FAP + Osseous and Soft tissue tumors.

A

Gardner’s syndrome

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16
Q

FAP + Malignant Brain tumor.

A

Turcot’s syndrome

17
Q

Mutation of DNA mismatch repair gene.

A

HNPCC/Lynch syndrome

18
Q

What are the 2 molecular pathways that lead to CRC?

A
  • Microsatellite instability pathway (15%)

- APC/ß-catenin (chromosomal instability) pathway (85%)

19
Q

What is the order of genetic events leading to CRC?

A

“AK-53”

1-Loss of APC gene
2-K-RAS mutation
3-Loss of p53