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Pathology · Haematology
Sample itemA 55-year-old woman has a platelet count of 900 x 10^9/L. Marrow shows large hyperlobated megakaryocytes. BCR-ABL1 and JAK2 V617F are both negative. Which driver mutation is most likely?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
A. CALR
Essential thrombocythaemia is driven by JAK2, CALR or MPL mutations. In JAK2-negative patients CALR is the commonest, with MPL much less frequent.
Option by option
A. CALR (correct)
Correct. CALR is the commonest driver in JAK2-negative essential thrombocythaemia.
B. JAK2 exon 12
JAK2 exon 12 mutations occur in polycythaemia vera with erythrocytosis, not in isolated thrombocytosis.
C. FLT3-ITD
FLT3-ITD is a mutation of acute myeloid leukaemia, not of a platelet-driven chronic neoplasm.
D. MPL
MPL is a recognised driver but is far rarer than CALR, so it is not the most likely.
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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