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Karyotyping01:17

Karyotyping

Overview
Karyotyping01:17

Karyotyping

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Related Experiment Video

Updated: May 16, 2026

Rapid Analysis of Chromosome Aberrations in Mouse B Lymphocytes by PNA-FISH
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Optical Genome Mapping Reveals Frequent Cryptic Structural Aberrations in Normal Karyotype Acute Myeloid Leukemia.

Tuuni Turtinen1, Andriana Valkama1, Christopher Wray1

  • 1Laboratory of Cancer Genetics and Tumor Biology, Translational Medicine Research Unit, Medical Research Center Oulu and Biocenter Oulu, University of Oulu, Oulu, Finland.

International Journal of Cancer
|May 14, 2026
PubMed
Summary

Optical genome mapping (OGM) detects significant structural variants (SVs) in cytogenetically normal acute myeloid leukemia (AML) cases. These previously undetected abnormalities are linked to poorer survival, highlighting OGM

Keywords:
acute myeloid leukemiacytogeneticsnormal karyotypeoptical genome mappingstructural variants

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Area of Science:

  • Genomics
  • Hematology
  • Cancer Biology

Background:

  • Cytogenetically normal acute myeloid leukemia (CN-AML) presents clinical heterogeneity.
  • Conventional karyotyping misses structural variants (SVs) in approximately half of CN-AML cases.
  • These undetected SVs may contribute to the observed heterogeneity and impact prognosis.

Purpose of the Study:

  • To comprehensively assess SVs in CN-AML using optical genome mapping (OGM).
  • To identify novel candidate gene alterations associated with CN-AML.
  • To evaluate the prognostic significance of OGM-detected abnormalities in CN-AML.

Main Methods:

  • Analysis of 48 CN-AML cases using optical genome mapping (OGM).
  • Comprehensive assessment for structural variants (SVs), including deletions, duplications, and translocations.
  • Correlation of identified genetic abnormalities with clinical data, including disease-specific survival.

Main Results:

  • Abnormalities were detected in 46% of CN-AML cases via OGM.
  • Clinically relevant SVs affecting leukemia-associated genes were found in 33% of cases.
  • OGM-detected abnormalities were significantly associated with worse disease-specific survival (p=0.007).
  • Novel findings include a putative FOXP1::EYA2 fusion and frequent alterations in KMT2A and RUNX1.

Conclusions:

  • A substantial proportion of CN-AML cases harbor clinically relevant SVs missed by standard techniques.
  • OGM is a valuable genome-wide tool for detecting these SVs in AML research and diagnostics.
  • The identification of SVs via OGM has prognostic implications and aids in understanding AML heterogeneity.