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mrcs med school > CRC, FAP, HNPCC > Flashcards

CRC, FAP, HNPCC Flashcards

1
Q

Age of CRC

A

Peak in 60s

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2
Q

Role of adenomatous polyposis coli (APC) in colorectal cancer?

A
  • APC is a protein that promotes degradation of β-catenin.
  • Mutations in APC lead to increased β-catenin

= Increased cell proliferation

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3
Q

Sequence of events from formation of adenomas to colorectal carcinomas caused by APC mutation?

A
  1. First hit: mutation of one APC copy
  2. Second hit: mutation of second copy of APC (leads to adenoma formation)
  3. Further mutations (eg in KRAS and p53) in the adenoma –> malignant transformation
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4
Q

Risk factors for colorectal cancer?

A
  1. Diet: ↓ fibre + ↑ refined carbohydrate
  2. Inflammatory bowel disease
  3. Familial: FAP, HNPCC, Peut-Jeghers
  4. Smoking
  5. Genetic
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5
Q

Meds protective against CRC

A

Aspirin

NSAIDs

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6
Q

What type of carcinoma are the majority of colorectal cancers?

A
  • 95% adenocarcinoma
  • others: lymphoma, GIST, carcinoid
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7
Q

The 3 common sites for colorectal cancers?

A

Rectum: 35%

Sigmoid: 25%

Caecum and ascending colon: 20%

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8
Q

Symptoms of left sided colorectal cancer?

A

Left sided cancer:

  • Altered bowel habit
  • PR mass- Obstruction
  • bleeding/ mucus
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9
Q

Sx of right sided CRC

A

anaemia

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10
Q

Anal fistula

A

a narrow tunnel with its internal opening in the anal canal and its external opening in the skin near the anus

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11
Q

MRI use for colorectal carcinoma?

A

MRI best for rectal Ca and liver mets

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12
Q

Tumour marker for CRC

A

CEA (carcinoembryonic Ag)

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13
Q

Staging of rectal tumour

A

Endoanal ultrasound

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14
Q

Findings of Ba enema in CRC

A

apple-core lesion

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15
Q

DUKES staging of colorectal cancer?

A

A. confined to bowel wall

B. through bowel wall but not lymph nodes

C. regional lymph nodes

D. distant mets

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16
Q

T in TNM staging of colorectal cancer?

A

TIS: carcinoma in situ

T1: submucosa

T2: muscularis propria

T3: subserosa

T4: through the serosa to adjacent organs

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17
Q

N in TNM staging of CRC

A

N1: 1-3 nodes

N2: >4 nodes

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18
Q

Grading of colorectal cancer?

A

Grading from low to high

  • Based on cell morphology
  • Dysplasia, mitotic index, hyperchromatism
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19
Q

Pre-operative preparation for colorectal cancer resection surgery?

A

Kleen Prep (Macrogol: osmotic laxative) the day before

Phosphate enema in the morning of surgery.

Discuss stomas (Stoma nurse consult for siting)

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20
Q

Surgical options for rectal cancer management?

A
  1. Anterior resection:
  2. Abdominoperineal resection
  3. Total mesorectal excision (TME)
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21
Q

Anterior resection

A

used for proximal 2/3 of the rectum (tumour 4-5cm from anal verge)

  • takes out rectum
  • spares sphincter
  • needs loop ileostomy
22
Q

Abdominoperineal resection

A
  • used for distal 1/3 of the rectum ( tumour <4cm from anal verge)
  • takes out rectum, anus
  • permenant colostomy
23
Q

Total mesorectal excision (TME)

A
  • removal of mesorectum
  • for tumours of the middle and lower third of rectum
  • it reduces the cancer recurrence
  • Side effect: ↑ risk of faecal incontinence
24
Q

Mesorectum?

A

is the perirectal fat separated by the rectal fascia

25
Q

Surgical options for sigmoid tumours

A

high anterior resection

or sigmoid colectomy

26
Q

Surgical option for left sided tumour

A

left hemicolectomy

27
Q

Surgical option for tansverse tunmours

A

extended right hemicolectomy

28
Q

Surgical option for caecal tumours

A

right hemicolectomy

29
Q

Screening programs for colorectal cancer?

A
  1. FOB (faecal occult blood) Testing
    - every 2 yrs: from 2 bowel motions
    - 60-75yrs
    - if +, colonoscopy
  2. Flexi Sigmoidoscopy
    - 55-60yrs
30
Q

Genetics of Familial adenomatous polyposis (FAP) ?

A
  • Autosomal dominant
  • Mutated APC gene
31
Q

Presentation features of Familial adenomatous polyposis (FAP) ?

A
  • 100-1000s of adenomas by ~16yrs,
  • mainly in large bowel (But also stomach and duodenum, near ampula)
  • 100% CRC by ~40s
32
Q

Variants of Familial adenomatous polyposis (FAP) ?

A
  1. attenuated FAP
  2. Gardener’s syndrome
  3. Turcot’s syndrome
33
Q

Attenuated FAP?

A
  • <100 adenomas,
  • Later CRC; >50yrs
34
Q

Gardener’s syndrome 4 features?

A

TODE

  • Thyroid tumours
  • Osteomas of the mandible, skull and long bones
  • Dental abnormalities: supernumerary teeth
  • Epidermal cysts
35
Q

Turcot’s syndrome?

A

Polyps + CNS tumours: medullo- and glio-blastomas

36
Q

Management of FAP?

A

Prophylactic colectomy before 20yrs

Total colectomy + ileorectal anastomosis (IRA)

Proctocolectomy + ileal pouch anal anastomosis (IPAA)

Regular endoscopic screening as risk of stomach and duodenum Ca

37
Q

Proctocolectomy + ileal pouch anal anastomosis (IPAA)?

A
  • removal of rectum and large colon
  • surgical construction of internal reservoir by folding loops of small intestine (the ileum) back on themselves and stitching them together
  • The internal walls are removed
  • retains or restores functionality of the anus with stools passed under voluntary control of the patient
38
Q

Hereditary Non-Polyposis Colorectal Cancer (HNPCC) genetics?

A
  • Autosomal dominant
  • Mutation of mismatch repair enzymes (eg MSH2)
39
Q

Presentation of Hereditary Non-Polyposis Colorectal Cancer (HNPCC) ?

A

Lynch 1 syndrome

Lynch 2 syndrome

40
Q

Lynch 1 fx

A

right sided CRC

41
Q

Lynch 2 fx

A

CRC

gastric

endometrial

prostate

breast

42
Q

Diagnosis of Hereditary Non-Polyposis Colorectal Cancer (HNPCC)

A

“3, 2, 1, rule”

≥3 family members

over 2 generations

with one <50yrs

43
Q

Peutz-Jeghers Syndrome genetics?

A
  • Autosomal dominant
  • STK11 mutation
44
Q

Age of presentation of Peutz-Jeghers Syndrome?

A

at the age of ~ 10-15yrs

45
Q

Symptoms of Peutz-Jeghers Syndrome?

A

Mucocutaneous hyperpigmentation

Multiple GI hamartomatous polyps (Intussusception/haemorrhage)

46
Q

Risk associated with Peutz-Jeghers Syndrome?

A

↑ Cancer risk:

  • Colorectal
  • pancreas
  • lung
  • breast
  • ovaries
  • uterus
47
Q

Different types of GI polyps?

A

I. Inflammatory pseudopolyps

II. Hyperplastic polyps

III. Hamartomatous

IV. neoplastic

48
Q

What are inflammatory pseudopolyps?

A

regenerating islands of mucosa in ulcerative colitis

49
Q

What are hyperplastic polyps?

A
  • Piling up of goblet cells and absorptive cells
  • No malignant potential
50
Q

What are Hamartomatous polyps

A

Tumour-like growths composed of tissues present at site where they develop

Sporadic or part of familial syndromes

51
Q

Tenesmus?

A
  • refers to cramping rectal pain

Tenesmus makes patient feel like they need to have a bowel movement, even if they had one recently

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