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.

Authors

Keijiro Sato, Kaori Suzuki, Kenichi Sakamoto, Akira Ishiguro, Toshimitsu Ueki, Naoaki Ichikawa

Published in

Internal medicine (Tokyo, Japan). Jul 11, 2026. Epub Jul 11, 2026.

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.

PMID:
42438028
Bibliographic data and abstract were imported from PubMed on 13 Jul 2026.

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