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GI cancer, polyposis & NETs flashcards

15 high-yield MRCP Part 1 cards from the Intellect Medicos Gastroenterology & Hepatology course. Try to answer each question before you open it — then study them properly with spaced repetition, which brings each card back just before you would forget it.

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1. Lynch syndrome (HNPCC) is autosomal dominant, caused by germline mutations in DNA ______ genes, most often MSH2 and MLH1.

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   mismatch repair

   Why? Failed repair causes microsatellite instability and early, often right-sided, colorectal cancer without diffuse polyposis.

2. What is the most common extracolonic cancer in Lynch syndrome?

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   Endometrial cancer.

   Why? Others: ovarian, gastric, small bowel, urinary tract, brain (Turcot variant) and sebaceous tumours (Muir–Torre variant).

3. How often is surveillance colonoscopy done in Lynch syndrome?

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   Every 2 years.

   Why? Cancers develop quickly from adenomas when mismatch repair fails, so intervals are short.

4. Familial adenomatous polyposis is autosomal dominant, caused by mutation of the ______ gene on chromosome 5q21.

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   APC

   Why? Hundreds to thousands of adenomas appear by the teenage years and cancer is almost certain without colectomy.

5. Familial adenomatous polyposis is autosomal dominant, caused by mutation of the APC gene on chromosome ______.

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   5q21

   Why? Hundreds to thousands of adenomas appear by the teenage years and cancer is almost certain without colectomy.

6. After prophylactic colectomy, what is a leading cause of death in familial adenomatous polyposis?

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   Duodenal (periampullary) adenocarcinoma – so upper GI endoscopic surveillance is needed.

   Why? Duodenal adenomas are almost universal in FAP. Desmoid tumours are the other major cause of morbidity.

7. A 16-year-old presents with colicky abdominal pain from small-bowel intussusception. He has dark brown macules on his lips and buccal mucosa. Which gene is mutated?

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   STK11 (LKB1) on chromosome 19 – Peutz–Jeghers syndrome.

   Why? Autosomal dominant hamartomatous polyps, mostly in the jejunum, cause intussusception and bleeding. Lifetime cancer risk is very high (GI, breast, pancreas, Sertoli cell tumours).

8. The England bowel screening programme posts a FIT kit every ______ to people aged 50–74; in symptomatic patients, a FIT result of 10 µg Hb/g faeces or more triggers a suspected-cancer referral.

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   2 years

   Why? FIT detects human haemoglobin. Colonoscopy with biopsy is the gold standard; CT colonography is an alternative.

9. The England bowel screening programme posts a FIT kit every 2 years to people aged 50–74; in symptomatic patients, a FIT result of ______ triggers a suspected-cancer referral.

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   10 µg Hb/g faeces or more

   Why? FIT detects human haemoglobin. Colonoscopy with biopsy is the gold standard; CT colonography is an alternative.

10. What is CEA used for in colorectal cancer?

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    As a baseline tumour marker for prognosis and monitoring for recurrence – not for diagnosis or screening.

    Why? CEA is raised in many benign conditions and smokers, so it is too non-specific to diagnose cancer.

11. In metastatic colorectal cancer, bevacizumab targets ______ and cetuximab targets EGFR.

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    VEGF

    Why? Bevacizumab blocks tumour angiogenesis; cetuximab blocks a growth-factor receptor.

12. In metastatic colorectal cancer, bevacizumab targets VEGF and cetuximab targets ______.

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    EGFR

    Why? Bevacizumab blocks tumour angiogenesis; cetuximab blocks a growth-factor receptor.

13. What is the first-line urine test for carcinoid syndrome?

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    24-hour urinary 5-HIAA (a breakdown product of serotonin).

    Why? Carcinoid syndrome usually means liver metastases, which let serotonin bypass hepatic first-pass metabolism. Chromogranin A is less specific (raised by PPIs and CKD).

14. What is the drug treatment of a carcinoid crisis during surgery or anaesthesia?

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    Immediate IV octreotide (a somatostatin analogue).

    Why? Octreotide blocks release of serotonin and other mediators, reversing hypotension and bronchospasm. Somatostatin analogues are also used long term for flushing and diarrhoea.

15. Which electrolyte abnormality is classically caused by a large rectal villous adenoma?

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    Hypokalaemia (with profuse mucous diarrhoea).

    Why? The tumour secretes large volumes of potassium-rich mucus. Severe cases (McKittrick–Wheelock syndrome) cause dehydration, hyponatraemia and AKI and need resection.