{
  "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.",
  "abstract_shown": true,
  "affiliations": [
    "Service d'hématologie Clinique Centre Hospitalier Lyon Sud Hospices Civils de Lyon Pierre Bénite France.",
    "Service d'anatomie pathologique Centre Hospitalier Lyon Sud Hospices Civils de Lyon Pierre Bénite France.",
    "INSERM U1111 - CNRS UMR5308 Centre International de Recherche en Infectiologie (CIRI) Université Lyon 1 Lyon France.",
    "Laboratoire D'hématologie Centre Hospitalier Lyon Sud Hospices Civils de Lyon Pierre Bénite France.",
    "INSERM Institut De Recherche Saint Louis (IRSL) Université Paris Cité Paris France."
  ],
  "article_type": "case study",
  "arxiv": null,
  "author_total": 18,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Marianne Caledec"
    },
    {
      "affs": [
        0
      ],
      "name": "Hélène Labussière-Wallet"
    },
    {
      "affs": [
        1
      ],
      "name": "Juliette Fontaine"
    },
    {
      "affs": [
        0
      ],
      "name": "Marie Larcher"
    },
    {
      "affs": [
        0
      ],
      "name": "Fiorenza Barraco"
    },
    {
      "affs": [
        0
      ],
      "name": "Marie Balsat"
    },
    {
      "affs": [
        0
      ],
      "name": "Anne-Marie Daull"
    },
    {
      "affs": [
        0
      ],
      "name": "Zofia Gross"
    },
    {
      "affs": [
        0
      ],
      "name": "Juliette Helluin"
    },
    {
      "affs": [
        0
      ],
      "name": "Sandrine Loron"
    },
    {
      "affs": [
        0
      ],
      "name": "Lila Gilis"
    },
    {
      "affs": [
        0
      ],
      "name": "Sophie Ducastelle-Lepretre"
    },
    {
      "affs": [
        0
      ],
      "name": "Gaelle Fossard"
    },
    {
      "affs": [
        0,
        2
      ],
      "name": "Mael Heiblig"
    },
    {
      "affs": [
        3
      ],
      "name": "Pierre Sujobert"
    },
    {
      "affs": [
        4
      ],
      "name": "Morgane Fontaine"
    },
    {
      "affs": [
        3
      ],
      "name": "Sandrine Hayette"
    },
    {
      "affs": [
        0,
        2
      ],
      "name": "Vincent Alcazer"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/cxw2vdk920n75.bib",
  "cited_by": 0,
  "doi": "10.1002/jha2.70450",
  "fulltext_url": "https://europepmc.org/articles/PMC13724116",
  "id": "cxw2vdk920n75",
  "issns": [
    "2688-6146"
  ],
  "landing_url": "https://europepmc.org/article/MED/42968844",
  "language": "eng",
  "licence": "CC-BY-NC",
  "licence_label": "CC BY-NC",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by-nc/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Case Report"
    ],
    [
      "openalex",
      "2720|Acute Myeloid Leukemia Research"
    ]
  ],
  "openalex": "W7225047477",
  "pdf_url": "https://europepmc.org/articles/PMC13724116?pdf=render",
  "pmcid": "PMC13724116",
  "pmid": "42968844",
  "published": "2026-11-01",
  "publisher": "Wiley",
  "ris": "https://research.draconitic.com/paper/cxw2vdk920n75.ris",
  "sources": [
    {
      "first_seen": "2026-11-03T15:20:53Z",
      "native_id": "MED:42968844",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42968844"
    },
    {
      "first_seen": "2026-11-04T12:22:38Z",
      "native_id": "PMC13724116",
      "source": "pmc",
      "url": "https://doi.org/10.1002/jha2.70450"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2720|Acute Myeloid Leukemia Research",
      "subfield": "general"
    }
  ],
  "title": "Identification of a Novel KRAS::ETNK1 Fusion Transcript in a Myelodysplastic/Myeloproliferative Overlap Syndrome With Eosinophilia: A Case Report.",
  "title_text": "Identification of a Novel KRAS::ETNK1 Fusion Transcript in a Myelodysplastic/Myeloproliferative Overlap Syndrome With Eosinophilia: A Case Report.",
  "type": "peer-reviewed",
  "updated_at": "2026-11-05T12:20:49Z",
  "url": "https://research.draconitic.com/paper/cxw2vdk920n75",
  "venue": "EJHaem",
  "versions": []
}