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Primary Myelofibrosis — RACP Adult Medicine MCQ

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ModerateHaematologyPrimary MyelofibrosisRACP Adult Medicine

A 58-year-old woman presents with fatigue, massive splenomegaly, and a leukoerythroblastic blood film (teardrop cells, nucleated red cells, immature myeloid precursors). WCC is 18 × 10⁹/L, Hb 95 g/L, platelets 120 × 10⁹/L. JAK2 V617F is positive. Bone marrow biopsy shows reticulin fibrosis. What is the most likely diagnosis?

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Correct answer: E — Primary myelofibrosis

Leukoerythroblastic blood film with teardrop cells, massive splenomegaly, bone marrow fibrosis, and JAK2 positivity is diagnostic of primary myelofibrosis. DIPSS-plus risk stratification guides management. JAK2 inhibitors (ruxolitinib) reduce splenomegaly and constitutional symptoms. Allogeneic stem cell transplant is the only curative option for eligible patients.

Reference: WHO – 2022 – MPN Classification; ELN/NCCN 2024 MPN Guidelines