Platelet transcriptome analysis in patients with germline RUNX1 mutations.

doi:10.1016/j.jtha.2023.01.023

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Article

Platelet transcriptome analysis in patients with germline RUNX1 mutations.

Journal of thrombosis and haemostasis : JTH - 1 May 2023

Palma-Barqueros Verónica, Bastida José María, López Andreo María José, Zámora-Cánovas Ana, Zaninetti Carlo, Ruiz-Pividal Juan Francisco, Bohdan Natalia, Padilla José, Teruel-Montoya Raúl, Marín-Quilez Ana, Revilla Nuria, Sánchez-Fuentes Ana, Rodriguez-Alen Agustín, Benito Rocío, Vicente Vicente, Iturbe Teodoro, Greinacher Andreas, Lozano María Luisa, Rivera José

Abstract excerpt

BACKGROUND: Germline mutations in RUNX1 can cause a familial platelet disorder that may lead to acute myeloid leukemia, an autosomal dominant disorder characterized by moderate thrombocytopenia, platelet dysfunction, and a high risk of developing acute myeloid leukemia or myelodysplastic syndrome. Discerning the pathogenicity of novel RUNX1 variants is critical for patient management. OBJECTIVES: To extend the...

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PMID: 36736831
DOI: 10.1016/j.jtha.2023.01.023

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