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Myelofibrosis — RACP Adult Medicine MCQ

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ModerateHaematologyMyelofibrosisRACP Adult Medicine

A 65-year-old man presents with massive splenomegaly (palpable 12 cm below costal margin), constitutional symptoms (weight loss, night sweats), and leukoerythroblastic blood film (teardrop cells, nucleated RBCs, immature myeloid cells). Bone marrow is a dry tap. Trephine shows grade 3-4 reticulin fibrosis. JAK2 V617F is positive. What is the most likely diagnosis?

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Correct answer: E — Myelofibrosis

Massive splenomegaly, constitutional symptoms, leukoerythroblastic blood film (extramedullary haematopoiesis), dry tap, reticulin fibrosis on trephine, and JAK2 positivity is primary myelofibrosis. DIPSS-plus risk stratification guides management. Treatment: ruxolitinib (JAK inhibitor) for symptomatic splenomegaly/constitutional symptoms (COMFORT trials). Allo-SCT is the only curative option for eligible high-risk patients. Transfusion support and EPO for anaemia.

Reference: WHO – 2022 – MPN; ELN 2024; COMFORT Trials