A 47-year-old woman has de novo acute myeloid leukaemia with normal conventional cytogenetics. Molecular testing shows a mutated NPM1 gene and no FLT3 internal tandem duplication. How is this genotype classified for prognosis?

• A Unclassifiable until karyotype is repeated
• B Intermediate risk
• C Adverse risk
• D Favourable risk ✓

Explanation

In AML with normal cytogenetics, mutated NPM1 in the absence of FLT3-ITD confers a favourable prognosis, with higher complete remission rates and better survival; cytoplasmic rather than nuclear NPM1 staining reflects the mutant protein. Coexistence of FLT3-ITD worsens outcome and shifts the case toward adverse risk. Repeating the karyotype adds nothing because the genetics are already defined at the molecular level.

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

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

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