NPM1-mutated AML: One entity, multiple layers of heterogeneity
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Updated: Nov 12, 2026

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes
Published on: October 10, 2025
Manja Meggendorfer1, Wolfgang Kern1
1MLL Munich Leukemia Laboratory, Munich, Germany.
Abstract:
Nucleophosmin 1 (NPM1) mutations are found in around one third of all acute myeloid leukaemias (AMLs). However, little is known about the clinical role of the rare, non-A NPM1 variants. Sangiorgio et al. showed that rare variants shared a similar molecular background and overall survival to the common type A, with FMS-like tyrosine kinase 3 (FLT3) status as the main determinant of outcome. Commentary on: Sangiorgio et al. Rare variants of NPM1 mutations share a similar molecular background to the common NPM1 type A variant and are associated with similar survival in adults with acute myeloid leukaemia. Br J Haematol 2026 (Online ahead of print). doi: 10.1182/blood-2024-202884.
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