Medical genetics: Philadelphia translocation: practice question

A Anatomy 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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Anatomy · Medical genetics: Philadelphia translocation

Sample item

A 45-year-old man has marked leucocytosis with all stages of granulocyte maturation and splenomegaly. Cytogenetics shows a translocation between chromosomes 9 and 22. What is the molecular consequence?

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

The answer and the reasoning

C. BCR-ABL tyrosine kinase fusion gene

The t(9;22) Philadelphia chromosome of chronic myeloid leukaemia fuses BCR on chromosome 22 with ABL on chromosome 9. The product is a constitutively active tyrosine kinase, which is the target of imatinib.

Option by option

  • A. PML-RARA fusion blocking maturation

    PML-RARA arises from t(15;17) in acute promyelocytic leukaemia.

  • B. IGH-MYC fusion with MYC overexpression

    IGH-MYC arises from t(8;14) in Burkitt lymphoma.

  • C. BCR-ABL tyrosine kinase fusion gene (correct)

    Correct. The BCR-ABL fusion gene encodes a constitutively active tyrosine kinase.

  • D. IGH-BCL2 fusion with BCL2 overexpression

    IGH-BCL2 arises from t(14;18) in follicular lymphoma.

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 Anatomy question

What is the answer to this Anatomy question?

The best answer is C, BCR-ABL tyrosine kinase fusion gene. The t(9;22) Philadelphia chromosome of chronic myeloid leukaemia fuses BCR on chromosome 22 with ABL on chromosome 9.

Why is "PML-RARA fusion blocking maturation" not the answer?

PML-RARA arises from t(15;17) in acute promyelocytic leukaemia.

Why is "IGH-MYC fusion with MYC overexpression" not the answer?

IGH-MYC arises from t(8;14) in Burkitt lymphoma.

Why is "IGH-BCL2 fusion with BCL2 overexpression" not the answer?

IGH-BCL2 arises from t(14;18) in follicular lymphoma.

What concept does this question test?

It tests Medical genetics: Philadelphia translocation in Anatomy. The product is a constitutively active tyrosine kinase, which is the target of imatinib.

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 Medical genetics: Philadelphia translocation?

Learn every nerve by its route, its muscles and what a lesion looks like at the bedside. That one habit answers a large share of questions. Then use the flashcards and the other Anatomy 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.