Article
Mutational profiling in suspected triple-negative essential thrombocythaemia using targeted next-generation sequencing in a real-world cohort.
Journal of clinical pathology - 1 Dec 2021
Michail Olga, McCallion Patrick, McGimpsey Julie, Hindley Andrew, Greenfield Graeme, McAllister Roisin, Feerick John, Arnold Claire, Cross Nick, Cuthbert Robert, McMullin Mary F, Catherwood Mark A
Abstract excerpt
Essential thrombocythaemia (ET) is driven by somatic mutations involving the JAK2, CALR and MPL genes. Approximately 10% of patients lack driver mutations and are referred as 'triple-negative' ET (TN-ET). The diagnosis of TN-ET, however, relies on bone marrow examination that is not always performed in routine practice, and thus in the real-world setting, there are a group of cases with suspected...
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