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RARA and RARG gene downregulation associated with EZH2 mutation in acute promyelocytic-like morphology leukemia

Nicoletta Coccaro1, Antonella Zagaria1, Paola Orsini1

  • 1Hematology Section, Department of Emergency and Organ Transplantation, University of Bari, 70124 Bari, Italy.

Human Pathology
|March 14, 2018
PubMed

Insights

This study identifies a novel EZH2 mutation in acute myeloid leukemia (AML) presenting APL-like features. The mutation leads to RARA and RARG gene downregulation, suggesting a new mechanism for APL development.

Area of Science:

  • Hematology
  • Molecular Biology
  • Epigenetics

Background:

  • Acute promyelocytic leukemia (APL) typically involves PML-RARA fusion.
  • Rare cases of APL-like features involve RARG gene rearrangements.
  • This study investigates an acute myeloid leukemia (AML) case with APL-like morphology but without RARA gene involvement.

Observation:

  • Standard molecular analyses excluded PML-RARA fusion and RARA/RARG rearrangements.
  • Targeted sequencing identified an EZH2-D185H mutation, affecting interaction with DNA methyltransferases.
  • Expression analysis revealed downregulation of RARA and RARG genes.

Findings:

  • A novel EZH2 mutation (EZH2-D185H) was identified in an AML patient with APL-like phenotype.
  • The mutation is hypothesized to cause epigenetic alterations leading to APL-like features.
  • Downregulation of RARA and RARG genes was observed, suggesting a novel pathogenic mechanism.

Implications:

  • This finding suggests a new mechanism for APL development involving EZH2 mutations.
  • The study highlights the role of epigenetic dysregulation in APL-like phenotypes.
  • Further research may uncover new therapeutic targets for AML with APL-like features.
Keywords:
APL-like leukemiaEZH2Epigenetic silencingNGSRARARARG

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