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MDS with Excess Blasts — RACP Adult Medicine MCQ

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ModerateHaematologyMDS with Excess BlastsRACP Adult Medicine

A 70-year-old man presents with pancytopenia (Hb 85, WCC 2.8, Plt 65). Blood film shows pseudo-Pelger-Huët cells and oval macrocytes. Bone marrow is hypercellular with trilineage dysplasia and 8% blasts. Cytogenetics show del(5q) and monosomy 7 (complex karyotype). What is the most likely diagnosis?

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Correct answer: B — Myelodysplastic syndrome

Pancytopenia with macrocytosis, dysplastic features (pseudo-Pelger-Huët), hypercellular marrow with trilineage dysplasia, 8% blasts, and complex karyotype is MDS-EB1 (excess blasts 1, 5-9%). Complex karyotype confers high-risk IPSS-R. Treatment: hypomethylating agent (azacitidine — AZA-001 trial) or allo-SCT if eligible. Luspatercept for transfusion-dependent anaemia with ring sideroblasts.

Reference: WHO – 2022 – MDS; ELN 2024; AZA-001 Trial