Integrating holotomography and deep learning for rapid detection of NPM1 mutations in AML

Rapid and accurate diagnosis of acute myeloid leukemia (AML) remains a significant challenge, particularly in the context of myelodysplastic syndrome (MDS) or MDS/myeloproliferative neoplasm with NPM1 mutations. This study introduces an innovative approach using holotomography (HT), a 3D label-free quantitative phase imaging technique, to detect NPM1 mutations. We analyzed a dataset of 2073 HT myeloblast images from 48 individuals, including both NPM1 wild-type and mutated samples, …