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October 23, 2025Molecular CytogeneticsOpen Access

Long-read sequencing unmasks a cryptic three-way translocation resulting in an ETV6::PDGFRB fusion

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Authors

JTJoseph TripodiIcahn School of Medicine at Mount SinaiDTDouglas TremblayIcahn School of Medicine at Mount SinaiDADaiva AhireIcahn School of Medicine at Mount Sinai

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Implication

Observational analysis reveals PDGFRB rearrangements in eosinophilia cases, indicating molecular characterization guides imatinib therapy effectiveness.

Key Points

  • Tyrosine kinase inhibitors improved patient outcomes in PDGFRB-rearranged neoplasms.
  • Imatinib therapy led to clinical and hematological improvement in a case study.
  • Long-read sequencing effectively identified complex genomic alterations such as the ETV6::PDGFRB fusion.
  • Molecular characterization is critical for accurate diagnosis and targeted treatments in hematologic malignancies.

Cite This Study

Tripodi et al. (2025) studied this question.

synapsesocial.com/papers/68fa32a40df2e6cd2f74213ahttps://doi.org/10.1186/s13039-025-00730-7
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Also Consider

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

  1. 1Integrative cytogenetic and molecular studies unmask “chromosomal mimicry” in hematologic malignancies2025 · 4 citations
  2. 2Driver Fusions and Their Implications in the Development and Treatment of Human Cancers2018 · 664 citations
  3. 3Durable responses to imatinib in patients with PDGFRB fusion gene–positive and BCR-ABL–negative chronic myeloproliferative disorders2006 · 173 citations
  4. 4Characterization of three new imatinib-responsive fusion genes in chronic myeloproliferative disorders generated by disruption of the platelet-derived growth factor receptor gene2007 · 92 citations
  5. 5NDEL1-PDGFRB fusion gene in a myeloid malignancy with eosinophilia associated with resistance to tyrosine kinase inhibitors2015 · 14 citations