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<p>Chronic eosinophilic leukemia (CEL) is a rare myeloproliferative neoplasm. Diagnosis of CEL is often challenging, notably because of the lack of recurrent and specific molecular event. We report here a case of CEL occurring in a 49-year-old man who presented a persistent hypereosinophilia (HE) associated with anemia and thrombopenia. Karyotyping showed a translocation t(5;12)(q31;p13). Targeted RNA Sequencing identified a novel <i>ETV6::RAPGEF6</i> fusion gene, confirmed by RT-PCR. Despite several lines of treatment, the patient died after 16 months of duration with transformation to acute myeloid leukemia (AML).</p><p>Contrary to myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions (MLN-TK), where fusion genes are both class defining and involve tyrosine kinase genes as the 3’ partner, fusion genes are exceedingly rare in non-MLN-TK myeloid malignancies with HE. The most reported fusion gene is <i>ETV6::ACSL6</i>, in rare cases. Previously, overexpression of <i>IL3</i> (<i>interleukin 3</i>) has been described in myeloid neoplasms with <i>ETV6::ACSL6</i> (previously named <i>ACS2</i>). In our case of CEL with the <i>ETV6::RAPGEF6</i> fusion, we also demonstrated overexpression of <i>IL3</i>, which could potentially result from the proximity of the <i>IL3</i> gene to <i>RAPGEF6</i>, similar to what is observed with <i>ACSL6</i> and <i>IL3</i>. The use of RNA sequencing in routine diagnosis of CEL could provide evidence for clonal event such as gene fusion, improving diagnosis as well as prognosis and therapeutic approaches.</p>

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Novel ETV6::RAPGEF6 fusion gene in chronic eosinophilic leukemia: compiling evidence on the role of IL3 overexpression in tumorigenesis

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年2月9日

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  • Mathilde Iberti,
  • Michael Loschi,
  • Frédérique Keslair,
  • Marcel Deckert,
  • Estelle Pichery,
  • Ilaria Di Mauro,
  • Valérie Duranton-Tanneur,
  • Corinne Ferrero,
  • Youta Fanjat,
  • Pierre Toulon,
  • Thomas Cluzeau,
  • Bérengère Dadone-Montaudié

摘要

Chronic eosinophilic leukemia (CEL) is a rare myeloproliferative neoplasm. Diagnosis of CEL is often challenging, notably because of the lack of recurrent and specific molecular event. We report here a case of CEL occurring in a 49-year-old man who presented a persistent hypereosinophilia (HE) associated with anemia and thrombopenia. Karyotyping showed a translocation t(5;12)(q31;p13). Targeted RNA Sequencing identified a novel ETV6::RAPGEF6 fusion gene, confirmed by RT-PCR. Despite several lines of treatment, the patient died after 16 months of duration with transformation to acute myeloid leukemia (AML).

Contrary to myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions (MLN-TK), where fusion genes are both class defining and involve tyrosine kinase genes as the 3’ partner, fusion genes are exceedingly rare in non-MLN-TK myeloid malignancies with HE. The most reported fusion gene is ETV6::ACSL6, in rare cases. Previously, overexpression of IL3 (interleukin 3) has been described in myeloid neoplasms with ETV6::ACSL6 (previously named ACS2). In our case of CEL with the ETV6::RAPGEF6 fusion, we also demonstrated overexpression of IL3, which could potentially result from the proximity of the IL3 gene to RAPGEF6, similar to what is observed with ACSL6 and IL3. The use of RNA sequencing in routine diagnosis of CEL could provide evidence for clonal event such as gene fusion, improving diagnosis as well as prognosis and therapeutic approaches.