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Pathology · Haematology: polycythaemia vera
Sample itemA 58-year-old has facial plethora, pruritus after a hot bath and splenomegaly with Hb 19 g/dL. Which test result is expected and supports primary rather than secondary erythrocytosis?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
D. Low serum erythropoietin with JAK2 mutation
Polycythaemia vera has a JAK2 mutation causing independent red cell production, so erythropoietin is suppressed. Secondary polycythaemia shows high erythropoietin.
Option by option
A. High serum erythropoietin with normal arterial oxygen
High erythropoietin with normal oxygen suggests an erythropoietin-secreting tumour such as renal cell carcinoma.
B. Normal erythropoietin with BCR-ABL1
BCR-ABL1 defines CML and not polycythaemia vera.
C. High serum erythropoietin with low arterial oxygen
High erythropoietin with low oxygen is secondary to hypoxia, as in lung disease.
D. Low serum erythropoietin with JAK2 mutation (correct)
Correct. Suppressed erythropoietin with JAK2 positivity indicates primary disease.
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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