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Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
09:49

Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing

Published on: July 5, 2019

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KMT2A-ARHGEF12, a therapy related fusion with poor prognosis

Nada Assaf1, Raphael Liévin2,3, Fatiha Merabet2,3

  • 1Department of Laboratory Medicine, Hemato-Oncologic Cytogenetics, Centre Hospitalier de Versailles, 2, rue JL Forain, 78150, Le Chesnay, France. assaf.nada@outlook.com.

Molecular Biology Reports
|August 12, 2021
PubMed
Abstract

Insights

This study identifies a novel KMT2A-ARHGEF12 gene fusion in leukemia, a rare rearrangement outside known breakpoints. This finding impacts understanding of therapy-related neoplasms and prognosis.

Area of Science:

  • Hematology
  • Oncology
  • Genetics

Background:

  • KMT2A gene rearrangements are crucial for acute leukemia prognosis and management.
  • Over 100 KMT2A translocation partners are known, influencing risk stratification.
  • Alterations typically involve specific KMT2A breakpoint regions.

Observation:

  • A case of mature plasmacytoid dendritic cells proliferation with B lymphoblasts harboring a KMT2A-ARHGEF12 fusion is presented.
  • This rare rearrangement results from a cryptic deletion on chromosome 11q, outside known KMT2A breakpoints.
  • This specific KMT2A-ARHGEF12 fusion has not been previously reported.

Findings:

  • The KMT2A-ARHGEF12 fusion is associated with therapy-related hematologic neoplasms.
  • This rare fusion confers an unfavorable prognosis in leukemia patients.
  • Review of existing cases highlights the clinical significance of this specific rearrangement.

Implications:

  • Reporting rare gene fusions like KMT2A-ARHGEF12 enhances understanding of leukemia biology.
  • Knowledge of these novel chimeras is essential for accurate diagnosis and treatment.
  • Further research into rare KMT2A rearrangements can improve patient outcomes.
Keywords:
ARHGEF12Acute lymphoid leukemiaAcute myeloid leukemiaKMT2APlasmacytoid dendritic cell

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