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

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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Publication Details

Journal
eJHaem
Published
2026-11-01
DOI
https://doi.org/10.1002/jha2.70450
Primary Topic
Acute Myeloid Leukemia Research
Type
article
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article

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

Maël Heiblig, Lila Gilis, Marie Balsat, Vincent Alcazer et al.
eJHaem
Acute Myeloid Leukemia Research
article

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

Maël Heiblig, Lila Gilis, Marie Balsat, Vincent Alcazer, Anne-Marie Daull, Sandrine Loron, Fiorenza Barraco, Gaëlle Fossard, Morgane Fontaine, Pierre Sujobert, Hélène Labussière‐Wallet, Sophie Ducastelle-Leprêtre, Marie Virginie Larcher, Zofia Gross, Sandrine Hayette, Juliette Fontaine, Juliette Helluin, Marianne Caledec
article en

Abstract

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

eJHaemVol. 7(6)
Université Claude Bernard Lyon 1 (FR), Centre National de la Recherche Scientifique (FR), Inserm (FR), Université de Lyon (FR), Université Paris Cité (FR), Hospices Civils de Lyon (FR), Hôpital Lyon Sud (FR), Centre International de Recherche en Infectiologie (FR), Institut de recherche Saint-Louis (FR)
Good health and well-being
Openalex Percentile: Top 12%
Acute Myeloid Leukemia Research
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