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Peer-reviewedCC BY-NCEJHaem

Identification of a Novel KRAS::ETNK1 Fusion Transcript in a Myelodysplastic/Myeloproliferative Overlap Syndrome With Eosinophilia: A Case Report.

  • Marianne Caledec1
  • Hélène Labussière-Wallet1
  • Juliette Fontaine2
  • Marie Larcher1
  • Fiorenza Barraco1
  • Marie Balsat1
  • Anne-Marie Daull1
  • Zofia Gross1
  • Juliette Helluin1
  • Sandrine Loron1
  • Lila Gilis1
  • Sophie Ducastelle-Lepretre1
6 more authors
  • Gaelle Fossard1
  • Mael Heiblig1,3
  • Pierre Sujobert4
  • Morgane Fontaine5
  • Sandrine Hayette4
  • Vincent Alcazer1,3
5 affiliations
  1. 1Service d'hématologie Clinique Centre Hospitalier Lyon Sud Hospices Civils de Lyon Pierre Bénite France.
  2. 2Service d'anatomie pathologique Centre Hospitalier Lyon Sud Hospices Civils de Lyon Pierre Bénite France.
  3. 3INSERM U1111 - CNRS UMR5308 Centre International de Recherche en Infectiologie (CIRI) Université Lyon 1 Lyon France.
  4. 4Laboratoire D'hématologie Centre Hospitalier Lyon Sud Hospices Civils de Lyon Pierre Bénite France.
  5. 5INSERM Institut De Recherche Saint Louis (IRSL) Université Paris Cité Paris France.
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Abstract

This work describes, to our knowledge, the first reported case of a patient with an MDS/MPN overlap syndrome harboring a novel KRAS::ETNK1 fusion transcript. The disease initially presented with eosinophilia, megakaryocyte expansion, mast cell infiltration, and a background of typical MDS/MPN-associated mutations (ASXL1, TET2, EZH2, BCOR, and SETBP1). Following allogeneic hematopoietic stem cell transplantation, the fusion-bearing clone disappeared due to a chromosome 12p deletion, and the disease evolved into secondary AML with distinct molecular drivers (MYB, EP300, FAT1, and GATA2). This case provides new insights into rare genetic alterations in MDS/MPN, possible mechanisms of immune-mediated clonal selection after allogeneic stem cell transplantation, and the dynamics of leukemic evolution. Trial Registration: The authors have confirmed clinical trial registration is not needed for this submission.

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Cite

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BibTeX
@article{caledec2026identification,
  title = {{Identification of a Novel KRAS::ETNK1 Fusion Transcript in a Myelodysplastic/Myeloproliferative Overlap Syndrome With Eosinophilia: A Case Report.}},
  author = {Marianne Caledec and Hélène Labussière-Wallet and Juliette Fontaine and Marie Larcher and Fiorenza Barraco and Marie Balsat and Anne-Marie Daull and Zofia Gross and Juliette Helluin and Sandrine Loron and Lila Gilis and Sophie Ducastelle-Lepretre and Gaelle Fossard and Mael Heiblig and Pierre Sujobert and Morgane Fontaine and Sandrine Hayette and Vincent Alcazer},
  journal = {EJHaem},
  year = {2026},
  month = nov,
  doi = {10.1002/jha2.70450},
  url = {https://europepmc.org/article/MED/42968844},
  note = {CC BY-NC},
}
RIS
TY  - JOUR
TI  - Identification of a Novel KRAS::ETNK1 Fusion Transcript in a Myelodysplastic/Myeloproliferative Overlap Syndrome With Eosinophilia: A Case Report.
AU  - Marianne Caledec
AU  - Hélène Labussière-Wallet
AU  - Juliette Fontaine
AU  - Marie Larcher
AU  - Fiorenza Barraco
AU  - Marie Balsat
AU  - Anne-Marie Daull
AU  - Zofia Gross
AU  - Juliette Helluin
AU  - Sandrine Loron
AU  - Lila Gilis
AU  - Sophie Ducastelle-Lepretre
AU  - Gaelle Fossard
AU  - Mael Heiblig
AU  - Pierre Sujobert
AU  - Morgane Fontaine
AU  - Sandrine Hayette
AU  - Vincent Alcazer
PY  - 2026
DA  - 2026/11/01
JO  - EJHaem
DO  - 10.1002/jha2.70450
UR  - https://europepmc.org/article/MED/42968844
AB  - This work describes, to our knowledge, the first reported case of a patient with an MDS/MPN overlap syndrome harboring a novel KRAS::ETNK1 fusion transcript. The disease initially presented with eosinophilia, megakaryocyte expansion, mast cell infiltration, and a background of typical MDS/MPN-associated mutations (ASXL1, TET2, EZH2, BCOR, and SETBP1). Following allogeneic hematopoietic stem cell transplantation, the fusion-bearing clone disappeared due to a chromosome 12p deletion, and the disease evolved into secondary AML with distinct molecular drivers (MYB, EP300, FAT1, and GATA2). This case provides new insights into rare genetic alterations in MDS/MPN, possible mechanisms of immune-mediated clonal selection after allogeneic stem cell transplantation, and the dynamics of leukemic evolution. Trial Registration: The authors have confirmed clinical trial registration is not needed for this submission.
SN  - 2688-6146
ER  -