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Article

[Clinical management of familial platelet disorder with associated myeloid malignancies: at the crossroads of hematology and clinical genetics].

[Rinsho ketsueki] The Japanese journal of clinical hematology - 1 Jan 2026

Watanabe Mizuki

Abstract excerpt

With the widespread adoption of genomic testing, germline predisposition syndromes such as RUNX1-familial platelet disorder with associated myeloid malignancy (FPD-MM) are increasingly encountered in routine hematological practice. FPD-MM is driven by RUNX1 haploinsufficiency, which initially manifests as quantitative and qualitative platelet abnormalities. Over time, this constitutional defect promotes the...

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Source

Identifiers

PMID: 42543658
DOI: 10.11406/rinketsu.67.846

Genes

RUNX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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