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Pathology · Haematopathology: acute leukaemia
Sample itemA 30-year-old woman has bruising, a prolonged PT and aPTT with low fibrinogen, and a marrow full of abnormal promyelocytes containing multiple Auer rods. Which translocation is expected and which drug is used?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
D. t(15;17) PML-RARA, treated with all-trans retinoic acid
Acute promyelocytic leukaemia carries t(15;17), which fuses PML to the retinoic acid receptor alpha gene and blocks differentiation at the promyelocyte stage. Granules release procoagulants and cause DIC. All-trans retinoic acid with arsenic trioxide induces differentiation and gives excellent remission rates.
Option by option
A. t(8;21) RUNX1-RUNX1T1, treated with methotrexate
t(8;21) is seen in AML with maturation but is not the promyelocytic form.
B. t(14;18) BCL2, treated with rituximab alone
t(14;18) is seen in follicular lymphoma, not acute leukaemia.
C. t(9;22) BCR-ABL, treated with imatinib
t(9;22) is typical of chronic myeloid leukaemia and is treated with tyrosine kinase inhibitors.
D. t(15;17) PML-RARA, treated with all-trans retinoic acid (correct)
Correct. The translocation and the differentiating agent are specific to this leukaemia.
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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