Haematology: acute megakaryoblastic leukaemia in Down syndrome: 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 · Haematology: acute megakaryoblastic leukaemia in Down syndrome

Sample item

A 2-year-old child with Down syndrome has pancytopenia. Marrow aspiration is a dry tap and the trephine is fibrotic. Blasts with cytoplasmic blebs are myeloperoxidase negative and express CD41 and CD61. What is the diagnosis?

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

The answer and the reasoning

B. Acute megakaryoblastic leukaemia

Children with Down syndrome have a markedly increased risk of acute megakaryoblastic leukaemia in early childhood. The blasts express platelet glycoproteins CD41 and CD61, and marrow fibrosis causes the dry tap.

Option by option

  • A. Acute lymphoblastic leukaemia

    Acute lymphoblastic leukaemia is also raised in Down syndrome but expresses TdT and B-lineage markers, not CD41 and CD61.

  • B. Acute megakaryoblastic leukaemia (correct)

    Correct. Platelet glycoprotein expression with marrow fibrosis in a child with Down syndrome fits megakaryoblastic leukaemia.

  • C. Chronic myelomonocytic leukaemia

    Chronic myelomonocytic leukaemia is a disease of older adults with persistent monocytosis.

  • D. Acute promyelocytic leukaemia

    Acute promyelocytic leukaemia has heavily granulated, MPO-positive promyelocytes and a coagulopathy.

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 Pathology question

What is the answer to this Pathology question?

The best answer is B, Acute megakaryoblastic leukaemia. Children with Down syndrome have a markedly increased risk of acute megakaryoblastic leukaemia in early childhood.

Why is "Acute lymphoblastic leukaemia" not the answer?

Acute lymphoblastic leukaemia is also raised in Down syndrome but expresses TdT and B-lineage markers, not CD41 and CD61.

Why is "Chronic myelomonocytic leukaemia" not the answer?

Chronic myelomonocytic leukaemia is a disease of older adults with persistent monocytosis.

Why is "Acute promyelocytic leukaemia" not the answer?

Acute promyelocytic leukaemia has heavily granulated, MPO-positive promyelocytes and a coagulopathy.

What concept does this question test?

It tests Haematology: acute megakaryoblastic leukaemia in Down syndrome in Pathology. The blasts express platelet glycoproteins CD41 and CD61, and marrow fibrosis causes the dry tap.

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 Haematology: acute megakaryoblastic leukaemia in Down syndrome?

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.