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December 8, 2025BloodOpen Access

Acute myeloid leukemia with 4q12 rearrangements does not involve pdgfra

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Authors

HZHong ZhangSCS ChaiJYJingya Yao

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Overview

RNA-seq reveals false-positive rate of 64.3% for pdgfra in 4q12 rearrangements, suggesting new therapeutic targets.

Key Points

  • This research aims to investigate the molecular characteristics of 4q12 rearrangements in AML, particularly regarding pdgfra.
  • RNA-seq was performed on bone marrow samples from AML patients.
  • Two cases previously diagnosed with pdgfra rearrangement by FISH were analyzed alongside controls.
  • Differentially expressed genes were identified using a volcano plot, and KEGG pathway enrichment was conducted.
  • Two novel fusions, CDK6::CHIC2 and ETV6::CHIC2, were identified in cases misdiagnosed as pdgfra rearrangements.
  • The FISH analysis showed a 64.3% false-positive rate for pdgfra rearrangement in cases lacking pdgfra.
  • 492 differentially expressed genes were found, with significant enrichment in hematopoietic cell lineage and JAK-STAT signaling pathways.

Cite This Study

Zhang et al. (2025) studied this question.

synapsesocial.com/papers/69362f764fa91c937236e3c8https://doi.org/10.1182/blood-2025-1692
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Long-read sequencing unmasks a cryptic three-way translocation resulting in an ETV6::PDGFRB fusion2025
  2. 2Abstract 99: Enhanced detection of EML4-ALK fusions through integration of complex genomic rearrangements in DNA-based assays.2026
  3. 3Complete Remission to Imatinib in a Myeloid Neoplasm with Basophilia and PRKG2::PDGFRA Gene Fusion: A Case Report.2026
  4. 4Illuminating the <i>FGFR</i> Fusion Landscape in Chinese Patients: Unveiling Novel Molecular Insights and Clinical Implications2025
  5. 5A case of myeloid neoplasm with delayed diagnosis due to cytogenetically cryptic PDGFRB fusion2026