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Mutations within exon 12 of the Nucleophosmin (NPM1) gene are frequent events in acute myeloid leukemia (AML) accounting for 40% of normal karyotype patients, and timely identification of NPM1 mutations is crucial for classification, risk assessment and allocation of consolidation treatment (AML). Consequently, NPM1 mutated AML was acknowledged as a distinct WHO entity. However, different NPM1 mutations are observed, with subtype A being most common, followed by B and D and various rare subtypes. The current paradigm of leukemogenesis indicates that NPM1 mutations act as founder mutations and are highly stable in the course of the disease. Accordingly, the same NPM1 mutation has been shown to be present in late AML relapses occurring more than five years after first diagnosis. We here report a patient with a second manifestation of NPM1 mutated AML occurring eight years after first diagnosis characterized by a shift in the NPM1 mutation subtype as compared to initial diagnosis. The sequential observation of different NPM1 mutations in the same patient asks for careful reconsideration of the concept of late relapses in NPM1 mutated AML.

Pitfalls in the molecular follow up of NPM1 mutant acute myeloid leukemia