Bone tumours: genetics of osteosarcoma: practice question

A Orthopaedics 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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Orthopaedics · Bone tumours: genetics of osteosarcoma

Sample item

Which genetic abnormality predisposes to osteosarcoma?

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

The answer and the reasoning

D. Germline mutation of the retinoblastoma (RB1) or TP53 gene

Survivors of hereditary retinoblastoma (RB1 mutation) and Li-Fraumeni syndrome (TP53) have markedly increased osteosarcoma risk. Other predisposing factors include Paget disease, prior irradiation and Rothmund-Thomson syndrome.

Option by option

  • A. Loss of the APC gene alone

    APC loss relates to familial adenomatous polyposis.

  • B. Translocation t(X;18)

    t(X;18) characterises synovial sarcoma.

  • C. Translocation t(11;22)

    t(11;22) characterises Ewing sarcoma.

  • D. Germline mutation of the retinoblastoma (RB1) or TP53 gene (correct)

    Correct. RB1 and TP53 alterations are linked to osteosarcoma.

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 Orthopaedics question

What is the answer to this Orthopaedics question?

The best answer is D, Germline mutation of the retinoblastoma (RB1) or TP53 gene. Survivors of hereditary retinoblastoma (RB1 mutation) and Li-Fraumeni syndrome (TP53) have markedly increased osteosarcoma risk.

Why is "Loss of the APC gene alone" not the answer?

APC loss relates to familial adenomatous polyposis.

Why is "Translocation t(X;18)" not the answer?

t(X;18) characterises synovial sarcoma.

Why is "Translocation t(11;22)" not the answer?

t(11;22) characterises Ewing sarcoma.

What concept does this question test?

It tests Bone tumours: genetics of osteosarcoma in Orthopaedics. Other predisposing factors include Paget disease, prior irradiation and Rothmund-Thomson syndrome.

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 Bone tumours: genetics of osteosarcoma?

Pair each fracture with its classic complication and nerve injured. Then use the flashcards and the other Orthopaedics 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.