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Abstract <p><i>KMT2A</i> gene rearrangements are common genetic events in acute leukemia and lymphoma, particularly in younger patients, and are associated with poor outcome. Due to the wide range of partner genes and breakpoint locations, accurate identification of <i>KMT2A</i> rearrangements can be challenging in clinical molecular diagnostics. To achieve a rapid and cost-effective data on <i>KMT2A</i> translocation partner and fusion gene sequence, we follow a structured approach that includes standard GTG-banded karyotyping, fluorescence in situ hybridization (FISH) with 11q23.3 break-apart or translocation probes, DNA-based next-generation sequencing (NGS) for the entire <i>KMT2A</i> gene, and subsequent confirmation of fusion gene expression using real-time PCR with reverse transcription. Here, we illustrate our diagnostic workflow with a case of pediatric T-cell lymphoma harboring a <i>KMT2A</i> gene rearrangement.</p>

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KMT2A Gene Rearrangements Assessment in Molecular Diagnostics of Acute Leukemia and Lymphoma

  • 期刊论文

  • 发表日期：

    2025年9月1日

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  • E. Zerkalenkova,
  • E. Mikhailova,
  • S. Lebedeva,
  • A. Popov,
  • N. Lomov,
  • M. Rubtsov

摘要

Abstract

KMT2A gene rearrangements are common genetic events in acute leukemia and lymphoma, particularly in younger patients, and are associated with poor outcome. Due to the wide range of partner genes and breakpoint locations, accurate identification of KMT2A rearrangements can be challenging in clinical molecular diagnostics. To achieve a rapid and cost-effective data on KMT2A translocation partner and fusion gene sequence, we follow a structured approach that includes standard GTG-banded karyotyping, fluorescence in situ hybridization (FISH) with 11q23.3 break-apart or translocation probes, DNA-based next-generation sequencing (NGS) for the entire KMT2A gene, and subsequent confirmation of fusion gene expression using real-time PCR with reverse transcription. Here, we illustrate our diagnostic workflow with a case of pediatric T-cell lymphoma harboring a KMT2A gene rearrangement.