Haematology: cytogenetics of childhood ALL: 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: cytogenetics of childhood ALL

Sample item

A 4-year-old child is diagnosed with B-lymphoblastic leukaemia. Cytogenetics is awaited. Which of the following abnormalities would carry the most favourable prognosis?

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

The answer and the reasoning

A. t(12;21) ETV6-RUNX1

In childhood B-ALL, the ETV6-RUNX1 fusion from t(12;21) and high hyperdiploidy are the favourable cytogenetic groups, with high cure rates. Philadelphia chromosome, KMT2A rearrangement (typical of infant ALL) and hypodiploidy are associated with a poor prognosis.

Option by option

  • A. t(12;21) ETV6-RUNX1 (correct)

    Correct. ETV6-RUNX1 is the best-risk cytogenetic lesion in childhood B-ALL.

  • B. Hypodiploidy with fewer than 44 chromosomes

    Hypodiploidy with fewer than 44 chromosomes is a poor-risk feature.

  • C. t(9;22) BCR-ABL1

    t(9;22) produces BCR-ABL1 and carries a poor prognosis, although tyrosine kinase inhibitors have improved it.

  • D. t(4;11) KMT2A-AFF1

    t(4;11) with KMT2A rearrangement is typical of infant ALL and carries a poor prognosis.

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 A, t(12;21) ETV6-RUNX1. In childhood B-ALL, the ETV6-RUNX1 fusion from t(12;21) and high hyperdiploidy are the favourable cytogenetic groups, with high cure rates.

Why is "Hypodiploidy with fewer than 44 chromosomes" not the answer?

Hypodiploidy with fewer than 44 chromosomes is a poor-risk feature.

Why is "t(9;22) BCR-ABL1" not the answer?

t(9;22) produces BCR-ABL1 and carries a poor prognosis, although tyrosine kinase inhibitors have improved it.

Why is "t(4;11) KMT2A-AFF1" not the answer?

t(4;11) with KMT2A rearrangement is typical of infant ALL and carries a poor prognosis.

What concept does this question test?

It tests Haematology: cytogenetics of childhood ALL in Pathology. Philadelphia chromosome, KMT2A rearrangement (typical of infant ALL) and hypodiploidy are associated with a poor prognosis.

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 Haematology: cytogenetics of childhood ALL?

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.