Neoplasia: practice question

A Pathology 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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Pathology · Neoplasia

Sample item

A woman has macrocephaly, facial trichilemmomas, multiple hamartomatous gastrointestinal polyps, breast cancer and follicular thyroid carcinoma. Which gene is mutated?

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

The answer and the reasoning

A. PTEN

Cowden syndrome is caused by PTEN loss, which activates the PI3K-AKT pathway. It has multiple hamartomas and a raised risk of breast, thyroid and endometrial cancer.

Option by option

  • A. PTEN (correct)

    Correct. PTEN loss causes Cowden syndrome.

  • B. SMAD4

    SMAD4 mutation causes juvenile polyposis, with hamartomatous polyps and hereditary haemorrhagic telangiectasia in some patients.

  • C. APC

    APC mutation causes familial adenomatous polyposis, with adenomas.

  • D. STK11

    STK11 mutation causes Peutz-Jeghers syndrome, with oral pigmentation.

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.

More Pathology questions

Questions about this Pathology question

What is the answer to this Pathology question?

The best answer is A, PTEN. Cowden syndrome is caused by PTEN loss, which activates the PI3K-AKT pathway.

Why is "SMAD4" not the answer?

SMAD4 mutation causes juvenile polyposis, with hamartomatous polyps and hereditary haemorrhagic telangiectasia in some patients.

Why is "APC" not the answer?

APC mutation causes familial adenomatous polyposis, with adenomas.

Why is "STK11" not the answer?

STK11 mutation causes Peutz-Jeghers syndrome, with oral pigmentation.

What concept does this question test?

It tests Neoplasia in Pathology. It has multiple hamartomas and a raised risk of breast, thyroid and endometrial cancer.

How hard is this question?

We tag it as a multi-step question: it asks you to combine more than one idea. 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 Neoplasia?

Learn each disease as a bundle: cause, key histology, markers, and the clinical hallmark. Then use the flashcards and the other Pathology 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.