RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies Initially Diagnosed as Immune…

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.

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BibTeX RIS

BibTeX

@article{sato2026runx1,
  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}},
  author = {Keijiro Sato and Kaori Suzuki and Kenichi Sakamoto and Akira Ishiguro and Toshimitsu Ueki and Naoaki Ichikawa},
  journal = {Internal Medicine},
  year = {2026},
  month = jul,
  doi = {10.2169/internalmedicine.7679-26},
  url = {https://www.jstage.jst.go.jp/article/internalmedicine/advpub/0/advpub_7679-26/_article},
  note = {CC BY-NC-ND},
}

RIS

TY  - JOUR
TI  - 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
AU  - Keijiro Sato
AU  - Kaori Suzuki
AU  - Kenichi Sakamoto
AU  - Akira Ishiguro
AU  - Toshimitsu Ueki
AU  - Naoaki Ichikawa
PY  - 2026
DA  - 2026/07/11
JO  - Internal Medicine
DO  - 10.2169/internalmedicine.7679-26
UR  - https://www.jstage.jst.go.jp/article/internalmedicine/advpub/0/advpub_7679-26/_article
AB  - 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.
SN  - 1349-7235
SN  - 0918-2918
ER  -

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