# Rolling into the genome: linking mutations to cellular structure through label-free holographic cytometry

**Authors:** Maciej Trusiak

PMC · DOI: 10.1038/s41377-025-02053-z · 2025-10-14

## TL;DR

This paper introduces a label-free method to detect leukemia mutations by analyzing cell shape using holographic imaging and virtual reality.

## Contribution

The novel use of holo-tomographic flow cytometry and concave segmentation to link NPM1 mutations with nuclear morphology in leukemia cells.

## Key findings

- Holo-tomographic flow cytometry enables label-free phenotyping of acute myeloid leukemia blasts.
- A concave segmentation algorithm quantifies NPM1-mutation-associated cup-like nuclear morphologies.
- Virtual reality visualization enhances the analysis of 3D cell morphology changes.

## Abstract

Holo-tomographic flow cytometry for label-free phenotyping of suspended acute myeloid leukemia blasts is demonstrated. A concave segmentation algorithm is applied to 3D refractive index tomograms to quantify NPM1-mutation-associated cup-like nuclear morphologies, with virtual reality visualization offering engaging immersion. The method enables population-level detection of statistically significant shifts in 3D cell morphology, originally correlating phenotype with genotype.

Holo-tomographic flow cytometry allows label-free phenotyping of acute myeloid leukemia blasts, originally correlating phenotype with genotype. A concave segmentation algorithm is applied to 3D refractive index tomograms to quantify NPM1-mutation-associated cup-like nuclear morphologies, with virtual reality visualization offering engaging immersion.

## Linked entities

- **Genes:** NPM1 (nucleophosmin 1) [NCBI Gene 4869]
- **Diseases:** acute myeloid leukemia (MONDO:0015667)

## Full-text entities

- **Genes:** NPM1 (nucleophosmin 1) [NCBI Gene 4869] {aka B23, NPM}
- **Diseases:** acute myeloid leukemia (MESH:D015470)

## Figures

3 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12521481/full.md

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Source: https://tomesphere.com/paper/PMC12521481