Ocular oncology: practice question

A Ophthalmology 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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Ophthalmology · Ocular oncology

Sample item

Retinoblastoma is associated with abnormality of which chromosome region?

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

The answer and the reasoning

A. 13q14 (RB1 gene)

Retinoblastoma follows biallelic loss of the RB1 tumour suppressor gene at 13q14, in line with Knudson's two-hit hypothesis. It presents with leukocoria in young children and may be heritable and bilateral. Survivors of heritable disease have a higher risk of second cancers such as osteosarcoma.

Option by option

  • A. 13q14 (RB1 gene) (correct)

    Correct. RB1 loss is the cause.

  • B. 11p13 (WT1 gene)

    WT1 on 11p13 is linked to Wilms tumour.

  • C. 17p13 (TP53 gene)

    TP53 on 17p13 is linked to Li-Fraumeni syndrome.

  • D. 5q21 (APC gene)

    APC on 5q21 is linked to familial adenomatous polyposis.

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 Ophthalmology question

What is the answer to this Ophthalmology question?

The best answer is A, 13q14 (RB1 gene). Retinoblastoma follows biallelic loss of the RB1 tumour suppressor gene at 13q14, in line with Knudson's two-hit hypothesis.

Why is "11p13 (WT1 gene)" not the answer?

WT1 on 11p13 is linked to Wilms tumour.

Why is "17p13 (TP53 gene)" not the answer?

TP53 on 17p13 is linked to Li-Fraumeni syndrome.

Why is "5q21 (APC gene)" not the answer?

APC on 5q21 is linked to familial adenomatous polyposis.

What concept does this question test?

It tests Ocular oncology in Ophthalmology. It presents with leukocoria in young children and may be heritable and bilateral. Survivors of heritable disease have a higher risk of second cancers such as osteosarcoma.

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 Ocular oncology?

Group the red eye by what to examine and what the pupil does. Then use the flashcards and the other Ophthalmology 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.