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Updated: Jul 27, 2025

A Novel High-Throughput Ex Vivo Ovine Skin Wound Model for Testing Emerging Antibiotics
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Novel

Marco Tembrink1, Wanda Maria Gerding1, Stefan Wieczorek2

  • 1Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany.

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|June 10, 2023
PubMed
Summary
This summary is machine-generated.

Optical genome mapping (OGM) detects a novel NUP98::ASH1L fusion in acute myeloid leukemia (AML). OGM also reveals clonal evolution, highlighting its value for AML diagnostics and monitoring.

Keywords:
clonal evolutioncytogeneticsdisease monitoring: structural variantskaryotypingrare variant pipeline

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Area of Science:

  • Genomics
  • Hematology
  • Cancer Research

Background:

  • Acute myeloid leukemia (AML) diagnosis relies on cytogenetic analysis.
  • Identifying specific gene fusions is crucial for AML classification and treatment.
  • Existing methods may have limitations in detecting complex structural variants.

Purpose of the Study:

  • To evaluate Optical Genome Mapping (OGM) for detecting genome-wide structural variants in AML.
  • To identify novel genetic alterations in AML using OGM.
  • To assess OGM's utility for longitudinal disease monitoring in AML patients.

Main Methods:

  • Optical Genome Mapping (OGM) was employed for genome-wide structural variant detection.
  • A specialized pipeline (Rare Variant Pipeline, Bionano Genomics) was used for variant analysis.
  • Longitudinal samples from an AML patient were analyzed to track disease progression and treatment effects.

Main Results:

  • OGM identified a previously unrecognized NUP98::ASH1L fusion resulting from a complex rearrangement between chromosomes 1 and 11.
  • The study detected other structural variants with discordant allele frequencies, indicating clonal evolution under treatment pressure.
  • OGM successfully identified complex genomic rearrangements relevant to AML classification.

Conclusions:

  • OGM is a powerful tool for primary cytogenetic diagnostics in AML.
  • OGM facilitates longitudinal monitoring of AML, providing insights into clonal evolution.
  • This study underscores the necessity of advanced methods like OGM for comprehensive AML diagnostics and understanding disease heterogeneity.