Breast and endocrine surgery: Cowden syndrome: 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 · Breast and endocrine surgery: Cowden syndrome

Sample item

A 34-year-old woman with macrocephaly has facial trichilemmomas, multiple hamartomatous gastrointestinal polyps and follicular thyroid carcinoma. Her mother had breast cancer. Which gene is most likely mutated?

ASTK11BRETCAPCDPTEN

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

The answer and the reasoning

D. PTEN

Cowden syndrome is an autosomal dominant PTEN hamartoma tumour syndrome. It carries increased lifetime risks of breast, follicular thyroid and endometrial cancers, so patients need early and intensive breast and thyroid surveillance.

Option by option

A. STK11
STK11 mutation causes Peutz-Jeghers syndrome with mucocutaneous pigmentation.
B. RET
RET mutation causes multiple endocrine neoplasia type 2 with medullary thyroid carcinoma.
C. APC
APC mutation causes familial adenomatous polyposis with adenomatous polyps.
D. PTEN (correct)
Correct. PTEN mutation causes Cowden syndrome with hamartomas and breast and thyroid cancers.

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.

Questions about this General Surgery question

What is the answer to this General Surgery question?

The best answer is D, PTEN. Cowden syndrome is an autosomal dominant PTEN hamartoma tumour syndrome.

Why is "STK11" not the answer?

STK11 mutation causes Peutz-Jeghers syndrome with mucocutaneous pigmentation.

Why is "RET" not the answer?

RET mutation causes multiple endocrine neoplasia type 2 with medullary thyroid carcinoma.

Why is "APC" not the answer?

APC mutation causes familial adenomatous polyposis with adenomatous polyps.

What concept does this question test?

It tests Breast and endocrine surgery: Cowden syndrome in General Surgery. It carries increased lifetime risks of breast, follicular thyroid and endometrial cancers, so patients need early and intensive breast and thyroid surveillance.

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 Breast and endocrine surgery: Cowden syndrome?

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.