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Myelodysplastic Syndrome — RACP Adult Medicine MCQ

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ModerateHaematologyMyelodysplastic SyndromeRACP Adult Medicine

A 65-year-old man presents with pancytopenia and macrocytosis (MCV 108 fL). Blood film shows dysplastic neutrophils (hypolobated, pseudo-Pelger-Huët cells) and oval macrocytes. Bone marrow shows hypercellularity with trilineage dysplasia and 4% blasts. Ring sideroblasts are present. Cytogenetics show complex karyotype. What is the most likely diagnosis?

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Correct answer: E — Myelodysplastic syndrome

Pancytopenia with macrocytosis, dysplastic neutrophils (pseudo-Pelger-Huët), hypercellular marrow with trilineage dysplasia, <5% blasts, ring sideroblasts, and complex karyotype is MDS. IPSS-R risk stratification guides management. Complex karyotype indicates high-risk disease. Treatment for high-risk MDS: hypomethylating agents (azacitidine) or allogeneic SCT if eligible.

Reference: WHO – 2022 – MDS Classification; ELN 2024