Platelet transcriptome analysis in patients with germline RUNX1 mutations

• Published in: Journal of thrombosis and haemostasis Vol. 21; no. 5; pp. 1352 - 1365
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: England Elsevier Inc 01.05.2023
• Subjects: Blood Platelet Disorders - complications; Core Binding Factor Alpha 2 Subunit - genetics; Core Binding Factor Alpha 2 Subunit - metabolism; Gene Expression Profiling; Germ Cells - metabolism; Germ-Line Mutation; high-throughput sequencing; Humans; inherited thrombocytopenias; leukemia; Leukemia, Myeloid, Acute - genetics; Mutation; myelodysplastic syndrome; Myelodysplastic Syndromes; platelet transcriptomics; RUNX1-familial platelet disorder; Thrombocytopenia - complications; Thrombocytopenia - genetics; leukemia; inherited thrombocytopenias; platelet transcriptomics; myelodysplastic syndrome; high-throughput sequencing; RUNX1-familial platelet disorder

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 th...