{
  "abstract": "Objectives: To determine the prevalence and prognostic significance of the SKY92 gene‐expression signature, evaluate minimal/measurable residual disease (MRD), and identify molecular drivers of high‐risk disease in transplant‐eligible newly diagnosed multiple myeloma (TE‐NDMM) patients in the Republic of Ireland.\n\nMethods: Baseline genomic risk was assessed using the MMprofiler microarray in 114 TE‐NDMM patients. MRD was evaluated 100 days after autologous stem cell transplantation using next‐generation sequencing at the International Myeloma Working Group‐recommended sensitivity of 10−5. Differential gene expression and copy number analyses were performed and compared with digital MLPA and retrospective fluorescence in situ hybridisation (FISH).\n\nResults: SKY92 classified 25.4% (29/114) of patients as high‐risk and was associated with inferior progression‐free survival and other adverse disease features. MRD assessment achieved 10−5 sensitivity, although MRD negativity was not associated with SKY92 risk status. High‐risk disease demonstrated enrichment of pathways involved in chromosomal stability and DNA repair. NUF2 emerged as a key independent prognostic marker, showing strong association with high‐risk biology and identifying a potential molecular driver of aggressive disease. Copy number abnormality detection showed high concordance between MMprofiler, digital MLPA, and retrospective FISH.\n\nConclusions: This first characterisation of SKY92‐defined high‐risk multiple myeloma in Ireland supports integrated genomic profiling for clinical risk stratification and identifies NUF2 as a promising candidate driver, demonstrating that deep profiling of high‐risk disease may help to discover new targets for this challenging entity.",
  "abstract_shown": true,
  "affiliations": [
    "Multiple Myeloma Research Group Royal College of Surgeons in Ireland Dublin Ireland",
    "Molecular Pathology Laboratory Royal College of Surgeons in Ireland Dublin Ireland",
    "Department of Haematology Beaumont RCSI Cancer Centre Dublin Ireland",
    "Blood Cancer Network Ireland University of Galway Galway Ireland",
    "School of Biological and Chemical Sciences University of Galway Galway Ireland",
    "Department of Haematology Midland Regional Hospital Tullamore Tullamore Ireland",
    "Department of Haematology University Hospital Limerick Limerick Ireland",
    "Haematology Department Galway University Hospital Galway Ireland",
    "Discipline of Advanced Therapies, School of Medicine University of Galway Galway Ireland",
    "Department of Haematology Cork University Hospital Cork Ireland",
    "Department of Haematology University Hospital Waterford Waterford Ireland",
    "Department of Haematology St Vincent's University Hospital Dublin Ireland",
    "SkylineDx Rotterdam the Netherlands",
    "Department of Medicine University of Galway Galway Ireland"
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 25,
  "authors": [
    {
      "affs": [
        0,
        1
      ],
      "name": "Roisin M. McAvera",
      "orcid": "0000-0002-1222-3047"
    },
    {
      "affs": [
        0
      ],
      "name": "Izabela Cymer"
    },
    {
      "affs": [
        2
      ],
      "name": "John Quinn"
    },
    {
      "affs": [
        2
      ],
      "name": "Phillip T. Murphy",
      "orcid": "0000-0001-8340-1456"
    },
    {
      "affs": [
        2
      ],
      "name": "Patrick Thornton"
    },
    {
      "affs": [
        0
      ],
      "name": "Niamh McAuley"
    },
    {
      "affs": [
        0
      ],
      "name": "Harmony Black"
    },
    {
      "affs": [
        0
      ],
      "name": "Omar Abdelzaher",
      "orcid": "0009-0006-2780-0878"
    },
    {
      "affs": [
        0,
        2
      ],
      "name": "Catherine Duane"
    },
    {
      "affs": [
        3
      ],
      "name": "Tatiana Cichocka"
    },
    {
      "affs": [
        4
      ],
      "name": "Eva Szegezdi"
    },
    {
      "affs": [
        5
      ],
      "name": "Meegahage Perera"
    },
    {
      "affs": [
        5
      ],
      "name": "Gerard M. Crotty"
    },
    {
      "affs": [
        5
      ],
      "name": "Michelle Connolly"
    },
    {
      "affs": [
        5
      ],
      "name": "Aileen Walsh"
    },
    {
      "affs": [
        6
      ],
      "name": "Ruth Clifford"
    },
    {
      "affs": [
        7,
        8
      ],
      "name": "Janusz Krawczyk",
      "orcid": "0000-0003-0631-103X"
    },
    {
      "affs": [
        7
      ],
      "name": "Teresa Meenaghan"
    },
    {
      "affs": [
        9
      ],
      "name": "Vitaliy Mykytiv"
    },
    {
      "affs": [
        10
      ],
      "name": "Ezzat Elhassadi",
      "orcid": "0000-0002-3377-1130"
    },
    {
      "affs": [
        11
      ],
      "name": "Mark Coyne"
    },
    {
      "affs": [
        1
      ],
      "name": "Robert J. Cummins"
    },
    {
      "affs": [
        12
      ],
      "name": "Rowan Kuiper"
    },
    {
      "affs": [
        7,
        13
      ],
      "name": "Michael O'Dwyer",
      "orcid": "0000-0002-6173-7140"
    },
    {
      "affs": [
        0,
        1,
        2
      ],
      "name": "Siobhan V. Glavey"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/1m1y5p9echzbm.bib",
  "cited_by": 1,
  "doi": "10.1111/ejh.70282",
  "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13729999/",
  "id": "1m1y5p9echzbm",
  "issns": [
    "0902-4441",
    "1600-0609"
  ],
  "landing_url": "https://doi.org/10.1111/ejh.70282",
  "language": "en",
  "licence": "CC-BY-NC-ND-4.0",
  "licence_label": "CC BY-NC-ND 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by-nc-nd/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Original Article"
    ],
    [
      "openalex",
      "2720|Multiple Myeloma Research and Treatments"
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  "openalex": "W7201830624",
  "pdf_url": "https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/ejh.70282",
  "pmcid": "PMC13729999",
  "pmid": "42565514",
  "published": "2026-08-07",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/1m1y5p9echzbm.ris",
  "sources": [
    {
      "first_seen": "2026-11-07T12:22:41Z",
      "native_id": "PMC13729999",
      "source": "pmc",
      "url": "https://doi.org/10.1111/ejh.70282"
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  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2720|Multiple Myeloma Research and Treatments",
      "subfield": "general"
    }
  ],
  "title": "SKY92 Identifies High‐Risk Newly Diagnosed Multiple Myeloma With Inferior Progression‐Free Survival and Implicates NUF2 as a Candidate Driver",
  "title_text": "SKY92 Identifies High‐Risk Newly Diagnosed Multiple Myeloma With Inferior Progression‐Free Survival and Implicates NUF2 as a Candidate Driver",
  "type": "peer-reviewed",
  "updated_at": "2026-11-07T12:22:41Z",
  "url": "https://research.draconitic.com/paper/1m1y5p9echzbm",
  "venue": "European Journal of Haematology",
  "versions": []
}