Molecular characterisation of triple negative essential thrombocythaemia patients by platelet analysis and targeted sequencing.

Angona Figueras, Anna; Fernández Rodríguez, M. Concepción; Álvarez Larrán, Alberto; Camacho Díaz, Laura; Longarón Rozalen, Raquel; Torres, Erica; Pairet García, Silvia; Besses Raebel, Carles; Bellosillo Paricio, Beatriz

doi:http://dx.doi.org/10.1038/bcj.2016.75

Molecular characterisation of triple negative essential thrombocythaemia patients by platelet analysis and targeted sequencing.

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Angona A, Fernández-Rodríguez C, Alvarez-Larrán A, Camacho L, Longarón R, Torres E. et al. Molecular characterisation of triple negative essential thrombocythaemia patients by platelet analysis and targeted sequencing. Blood Cancer J. 2016 Aug 26;6(8):e463. DOI: 10.1038/bcj.2016.75

Abstract

Essential thrombocythaemia (ET) is a myeloproliferative neoplasm(MPN) characterised by megakaryocyte hyperplasia and thrombo-cytosis. From the genetic perspective, ET patients harbourmutations inJAK2(50–60%),CALR(15–30%) andMPL(1–5%) genes.