Endocrinology: multiple endocrine neoplasia: practice question

A General Medicine 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 Medicine · Endocrinology: multiple endocrine neoplasia

Sample item

A 25-year-old man has medullary thyroid carcinoma, and his father had a phaeochromocytoma and hypercalcaemia. Which gene is most likely mutated?

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

The answer and the reasoning

C. RET proto-oncogene

Medullary thyroid carcinoma with phaeochromocytoma and primary hyperparathyroidism defines MEN 2A, caused by activating mutations of the RET proto-oncogene on chromosome 10. Calcitonin is the tumour marker, and phaeochromocytoma must be excluded before thyroidectomy. MEN 1 involves parathyroid, pituitary and pancreatic tumours through loss of menin.

Option by option

  • A. MEN1 gene (menin)

    MEN1 causes parathyroid, pituitary and pancreatic islet tumours rather than medullary thyroid cancer.

  • B. VHL gene

    VHL causes haemangioblastomas, renal cell cancer and phaeochromocytoma but not medullary thyroid cancer.

  • C. RET proto-oncogene (correct)

    A gain-of-function RET mutation underlies MEN 2A and 2B and familial medullary thyroid cancer.

  • D. NF1 gene

    NF1 can cause phaeochromocytoma but is not associated with medullary thyroid cancer.

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 Medicine question

What is the answer to this General Medicine question?

The best answer is C, RET proto-oncogene. Medullary thyroid carcinoma with phaeochromocytoma and primary hyperparathyroidism defines MEN 2A, caused by activating mutations of the RET proto-oncogene on chromosome 10.

Why is "MEN1 gene (menin)" not the answer?

MEN1 causes parathyroid, pituitary and pancreatic islet tumours rather than medullary thyroid cancer.

Why is "VHL gene" not the answer?

VHL causes haemangioblastomas, renal cell cancer and phaeochromocytoma but not medullary thyroid cancer.

Why is "NF1 gene" not the answer?

NF1 can cause phaeochromocytoma but is not associated with medullary thyroid cancer.

What concept does this question test?

It tests Endocrinology: multiple endocrine neoplasia in General Medicine. Calcitonin is the tumour marker, and phaeochromocytoma must be excluded before thyroidectomy. MEN 1 involves parathyroid, pituitary and pancreatic tumours through loss of menin.

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 Endocrinology: multiple endocrine neoplasia?

For each disease know the classic presentation, the best test, and the first-line treatment. Then use the flashcards and the other General Medicine 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.