Urology: genetics of hereditary renal cell carcinoma: practice question

A General Surgery question in the style of the NEET PG paper. Answer it first, then read why the right option is right and why each of the others is wrong.

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General Surgery · Urology: genetics of hereditary renal cell carcinoma

Sample item

A 28-year-old man has bilateral clear cell renal carcinomas, retinal haemangioblastomas and a cerebellar haemangioblastoma. Which gene is affected?

Original practice item, not a recalled exam question. Nothing here is recorded.

The answer and the reasoning

A. VHL on chromosome 3

Von Hippel-Lindau disease results from loss of the VHL tumour suppressor on chromosome 3p. Loss leads to stabilised hypoxia-inducible factor and overproduction of VEGF, causing haemangioblastomas, clear cell renal carcinoma and phaeochromocytoma.

Option by option

  • A. VHL on chromosome 3 (correct)

    Correct. VHL on chromosome 3 causes this combination of haemangioblastomas and clear cell renal carcinoma.

  • B. TSC2 on chromosome 16

    TSC2 causes tuberous sclerosis, with angiomyolipomas, not clear cell carcinoma with haemangioblastomas.

  • C. FLCN on chromosome 17

    FLCN causes Birt-Hogg-Dube syndrome, with skin fibrofolliculomas, lung cysts and chromophobe or hybrid renal tumours.

  • D. RET on chromosome 10

    RET mutations cause MEN 2, with medullary thyroid carcinoma and phaeochromocytoma.

Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.

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Questions about this General Surgery question

What is the answer to this General Surgery question?

The best answer is A, VHL on chromosome 3. Von Hippel-Lindau disease results from loss of the VHL tumour suppressor on chromosome 3p.

Why is "TSC2 on chromosome 16" not the answer?

TSC2 causes tuberous sclerosis, with angiomyolipomas, not clear cell carcinoma with haemangioblastomas.

Why is "FLCN on chromosome 17" not the answer?

FLCN causes Birt-Hogg-Dube syndrome, with skin fibrofolliculomas, lung cysts and chromophobe or hybrid renal tumours.

Why is "RET on chromosome 10" not the answer?

RET mutations cause MEN 2, with medullary thyroid carcinoma and phaeochromocytoma.

What concept does this question test?

It tests Urology: genetics of hereditary renal cell carcinoma in General Surgery. Loss leads to stabilised hypoxia-inducible factor and overproduction of VEGF, causing haemangioblastomas, clear cell renal carcinoma and phaeochromocytoma.

How hard is this question?

We tag it as an application question: it asks you to use a fact on a patient or a finding. The tag is our own editorial judgement, not an official difficulty rating, so read the reason for every option, not only the answer.

How should I study Urology: genetics of hereditary renal cell carcinoma?

Learn classic signs and eponyms alongside what they diagnose. Then use the flashcards and the other General Surgery questions on this site to test what stuck.

Is this a real NEET PG question?

No. It is an original practice item (editorial status: sample, version 1). NextPrep does not publish recalled or leaked questions, and independent faculty review of this item has not been completed yet, so confirm important facts in a standard textbook.