{
  "abstract": "RUNX1 familial platelet disorder with associated myeloid malignancy (RUNX1-FPDMM) is an autosomal dominant disease that mimics immune thrombocytopenia (ITP). We report a case of a woman diagnosed with ITP who exhibited isolated megakaryocytic dysplasia in the bone marrow and a poor response to prednisolone and intravenous immunoglobulin. Ten years later, the patient was correctly diagnosed following her report of hematologic abnormalities across three generations, which prompted genetic testing. This case highlights that ITP should remain a diagnosis of exclusion throughout follow-up, and atypical findings or a suggestive family history should prompt reconsideration of inherited thrombocytopenia.",
  "abstract_shown": true,
  "affiliations": [],
  "article_type": null,
  "arxiv": null,
  "author_total": 6,
  "authors": [
    {
      "name": "Keijiro Sato"
    },
    {
      "name": "Kaori Suzuki"
    },
    {
      "name": "Kenichi Sakamoto"
    },
    {
      "name": "Akira Ishiguro"
    },
    {
      "name": "Toshimitsu Ueki"
    },
    {
      "name": "Naoaki Ichikawa"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/4mrsaeskb9dj5.bib",
  "cited_by": 0,
  "doi": "10.2169/internalmedicine.7679-26",
  "fulltext_url": "https://www.jstage.jst.go.jp/article/internalmedicine/advpub/0/advpub_7679-26/_article",
  "id": "4mrsaeskb9dj5",
  "issns": [
    "1349-7235",
    "0918-2918"
  ],
  "landing_url": "https://www.jstage.jst.go.jp/article/internalmedicine/advpub/0/advpub_7679-26/_article",
  "language": null,
  "licence": "CC-BY-NC-ND",
  "licence_label": "CC BY-NC-ND",
  "licence_source": "journal",
  "licence_url": "https://creativecommons.org/licenses/by-nc-nd/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "jstage-journal",
      "medicine/general"
    ],
    [
      "openalex",
      "2720|Platelet Disorders and Treatments"
    ]
  ],
  "openalex": "W7167898463",
  "pdf_url": "https://www.jstage.jst.go.jp/article/internalmedicine/advpub/0/advpub_7679-26/_pdf",
  "pmcid": null,
  "pmid": null,
  "published": "2026-07-11",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/4mrsaeskb9dj5.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:17:31Z",
      "native_id": "10.2169/internalmedicine.7679-26",
      "source": "jstage",
      "url": "https://www.jstage.jst.go.jp/article/internalmedicine/advpub/0/advpub_7679-26/_article"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2720|Platelet Disorders and Treatments",
      "subfield": "general"
    }
  ],
  "title": "RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies Initially Diagnosed as Immune Thrombocytopenia and Reclassified After 10 Years: Diagnostic Pitfall Revealed by a Family History",
  "title_text": "RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies Initially Diagnosed as Immune Thrombocytopenia and Reclassified After 10 Years: Diagnostic Pitfall Revealed by a Family History",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:17:31Z",
  "url": "https://research.draconitic.com/paper/4mrsaeskb9dj5",
  "venue": "Internal Medicine",
  "versions": []
}