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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
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Characterizing KMT2A Rearrangement in Acute Myeloid Leukemia: A Comprehensive Genomic Study.

Osama Batayneh1, Mahmoudreza Moein2, Nour Sabiha Naji2

  • 1Department of Medicine, Division of Hematology/Oncology, SUNY Upstate Medical University, 750 East Adams Street, Syracuse, NY 13210, USA.

Cancers
|January 10, 2026
PubMed
Summary
This summary is machine-generated.

KMT2A rearrangements are common in acute myeloid leukemia (AML), found in 13.4% of cases, primarily as large rearrangements like fusions. This genomic landscape study reveals distinct mutation patterns between KMT2A-rearranged and wild-type AML, aiding understanding of AML subtypes.

Keywords:
Acute Myeloid Leukemia (AML)KMT2A rearrangement (MLL)genomic alterationsmolecular study

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Area of Science:

  • Hematology
  • Oncology
  • Genomics

Background:

  • The KMT2A (MLL1) gene is frequently altered in various hematological malignancies and solid tumors.
  • KMT2A-rearranged (KMT2Ar) AML is a distinct subtype characterized by poor prognosis and high relapse rates, despite initial chemotherapy response.

Purpose of the Study:

  • To investigate the genomic landscape of KMT2A alterations in a large cohort of AML patients.
  • To identify differences in co-occurring genomic alterations between KMT2Ar and KMT2A wild-type (KMT2Awt) AML.

Main Methods:

  • Comprehensive DNA and RNA sequencing using FoundationOne Heme assay on 3863 AML peripheral blood samples.
  • Analysis of KMT2A genomic alterations (GAs), including rearrangements, short variants, amplifications, and deletions.
  • Comparison of GA frequencies between KMT2Ar and KMT2Awt AML cohorts.

Main Results:

  • KMT2A alterations were identified in 13.4% (521/3863) of AML cases, with 99.1% being large rearrangements (KMT2Ar).
  • KMT2Ar was predominantly characterized by fusions (52.7%) and duplications (43.1%); no amplifications or deletions were observed.
  • KMT2Ar AML showed increased frequencies of FLT3, KRAS, and IDH2 alterations, while KMT2Awt AML had higher rates of RUNX1, ASXL1, TET2, NPM1, and TP53 alterations.

Conclusions:

  • KMT2A rearrangements are a significant finding in AML, predominantly occurring as large structural variations.
  • Distinct genomic profiles exist between KMT2Ar and KMT2Awt AML, suggesting different molecular drivers and pathways.
  • Understanding these genomic differences can enhance the molecular characterization and potentially inform treatment strategies for AML subtypes.