Bone marrow biopsy in a 72-year-old shows hypercellularity with trilineage dysplasia, 8% blasts, and del(5q) as the sole cytogenetic abnormality with concurrent SF3B1 mutation. According to the WHO 2022 classification of myeloid neoplasms, what is the most appropriate classification?

• A MDS/AML
• B MDS with SF3B1 mutation
• C MDS, not otherwise specified
• D MDS with isolated del(5q) ✓

Explanation

In WHO 2022 classification, MDS with isolated del(5q) is a distinct entity defined by del(5q) as the sole or only cytogenetic abnormality (a second anomaly other than monosomy 7 or del(7q) is allowed). SF3B1 comutation does not negate the del(5q) classification, and del(5q) remains the defining entity if present. This patient has <10% blasts (still 8%), which excludes MDS/AML (≥10% blasts by WHO 2022). The del(5q) entity has a relatively favorable prognosis and specific responsiveness to lenalidomide.

Reference: Robbins & Cotran Pathologic Basis of Disease, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

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