Skin tumours: Cowden syndrome: practice question

A Dermatology 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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Dermatology · Skin tumours: Cowden syndrome

Sample item

A woman has multiple facial trichilemmomas, cobblestone papules of the oral mucosa, macrocephaly, thyroid goitre and fibrocystic breast disease. Which gene is mutated?

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

The answer and the reasoning

B. PTEN

Cowden syndrome is a PTEN hamartoma tumour syndrome with mucocutaneous trichilemmomas, papillomatous papules, macrocephaly and increased risk of breast, thyroid and endometrial cancers. PTEN is a negative regulator of the PI3K/AKT/mTOR pathway.

Option by option

  • A. STK11

    STK11 mutation causes Peutz-Jeghers syndrome with lentigines and gut polyps.

  • B. PTEN (correct)

    Correct. PTEN loss causes Cowden syndrome with trichilemmomas and cancer risk.

  • C. CDKN2A

    CDKN2A mutation causes familial melanoma and pancreatic cancer risk.

  • D. CYLD

    CYLD mutation causes Brooke-Spiegler syndrome with cylindromas and trichoepitheliomas.

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 Dermatology question

What is the answer to this Dermatology question?

The best answer is B, PTEN. Cowden syndrome is a PTEN hamartoma tumour syndrome with mucocutaneous trichilemmomas, papillomatous papules, macrocephaly and increased risk of breast, thyroid and endometrial cancers.

Why is "STK11" not the answer?

STK11 mutation causes Peutz-Jeghers syndrome with lentigines and gut polyps.

Why is "CDKN2A" not the answer?

CDKN2A mutation causes familial melanoma and pancreatic cancer risk.

Why is "CYLD" not the answer?

CYLD mutation causes Brooke-Spiegler syndrome with cylindromas and trichoepitheliomas.

What concept does this question test?

It tests Skin tumours: Cowden syndrome in Dermatology. PTEN is a negative regulator of the PI3K/AKT/mTOR pathway.

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 Skin tumours: Cowden syndrome?

Learn each condition by its primary lesion, site and signature sign. Then use the flashcards and the other Dermatology 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.