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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
Surgical options for sigmoid tumours
high anterior resection or sigmoid colectomy
26
Surgical option for left sided tumour
left hemicolectomy
27
Surgical option for tansverse tunmours
extended right hemicolectomy
28
Surgical option for caecal tumours
right hemicolectomy
29
Screening programs for colorectal cancer?
1. FOB (faecal occult blood) Testing - every 2 yrs: from 2 bowel motions - 60-75yrs - if +, colonoscopy 2. Flexi Sigmoidoscopy - 55-60yrs
30
Genetics of Familial adenomatous polyposis (FAP) ?
- Autosomal dominant - Mutated APC gene
31
Presentation features of Familial adenomatous polyposis (FAP) ?
- 100-1000s of adenomas by ~16yrs, - mainly in large bowel (But also stomach and duodenum, near ampula) - 100% CRC by ~40s
32
Variants of Familial adenomatous polyposis (FAP) ?
1. attenuated FAP 2. Gardener's syndrome 3. Turcot's syndrome
33
Attenuated FAP?
- \<100 adenomas, - Later CRC; \>50yrs
34
Gardener’s syndrome 4 features?
TODE - Thyroid tumours - Osteomas of the mandible, skull and long bones - Dental abnormalities: supernumerary teeth - Epidermal cysts
35
Turcot’s syndrome?
Polyps + CNS tumours: medullo- and glio-blastomas
36
Management of FAP?
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
Proctocolectomy + ileal pouch anal anastomosis (IPAA)?
- 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
Hereditary Non-Polyposis Colorectal Cancer (HNPCC) genetics?
- Autosomal dominant - Mutation of mismatch repair enzymes (eg MSH2)
39
Presentation of Hereditary Non-Polyposis Colorectal Cancer (HNPCC) ?
Lynch 1 syndrome Lynch 2 syndrome
40
Lynch 1 fx
right sided CRC
41
Lynch 2 fx
CRC gastric endometrial prostate breast
42
Diagnosis of Hereditary Non-Polyposis Colorectal Cancer (HNPCC)
“3, 2, 1, rule” ≥3 family members over 2 generations with one \<50yrs
43
Peutz-Jeghers Syndrome genetics?
- Autosomal dominant - STK11 mutation
44
Age of presentation of Peutz-Jeghers Syndrome?
at the age of ~ 10-15yrs
45
Symptoms of Peutz-Jeghers Syndrome?
Mucocutaneous hyperpigmentation Multiple GI hamartomatous polyps (Intussusception/haemorrhage)
46
Risk associated with Peutz-Jeghers Syndrome?
↑ Cancer risk: - Colorectal - pancreas - lung - breast - ovaries - uterus
47
Different types of GI polyps?
I. Inflammatory pseudopolyps II. Hyperplastic polyps III. Hamartomatous IV. neoplastic
48
What are inflammatory pseudopolyps?
regenerating islands of mucosa in ulcerative colitis
49
What are hyperplastic polyps?
- Piling up of goblet cells and absorptive cells - No malignant potential
50
What are Hamartomatous polyps
Tumour-like growths composed of tissues present at site where they develop Sporadic or part of familial syndromes
51
Tenesmus?
- refers to cramping rectal pain Tenesmus makes patient feel like they need to have a bowel movement, even if they had one recently

MRCS med school (44 decks)

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