Mutational profiling in suspected triple-negative essential thrombocythaemia using targeted next-generation sequencing in a real-world cohort
| Autor: | Mary Frances McMullin, Patrick McCallion, Roisin McAllister, Robert J. G. Cuthbert, Julie McGimpsey, Andrew Hindley, Olga Michail, Nicholas C.P. Cross, Graeme Greenfield, John Feerick, Claire Arnold, Mark Catherwood |
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| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Adult
Male 0301 basic medicine Oncology medicine.medical_specialty Time Factors Adolescent DNA Mutational Analysis Age at diagnosis Routine practice DNA sequencing Pathology and Forensic Medicine Young Adult 03 medical and health sciences 0302 clinical medicine Predictive Value of Tests Targeted ngs Internal medicine medicine Humans Genetic Predisposition to Disease Triple negative Aged Retrospective Studies medicine.diagnostic_test business.industry High-Throughput Nucleotide Sequencing General Medicine Janus Kinase 2 Middle Aged Prognosis medicine.disease Thrombosis Bone marrow examination Phenotype 030104 developmental biology 030220 oncology & carcinogenesis Mutation Cohort Female Calreticulin business Receptors Thrombopoietin Thrombocythemia Essential |
| Zdroj: | Michail, O, McCallion, P, McGimpsey, J, Hindley, A, Greenfield, G, Feerick, J, Arnold, C, Cross, N, Cuthbert, R, McMullin, M F & Catherwood, M A 2020, ' Mutational profiling in suspected triple-negative essential thrombocythaemia using targeted next-generation sequencing in a real-world cohort ', Journal of Clinical Pathology . https://doi.org/10.1136/jclinpath-2020-206570 |
| Popis: | 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 TN-myeloproliferativeneoplasm.In this real-world cohort, patients with suspected TN-ET were initially rescreened for JAK2, CALR and MPL and then targeted next-generation sequencing (NGS) was applied.The 35 patients with suspected TN-ET had a median age at diagnosis of 43 years (range 16–79) and a follow-up of 10 years (range 2–28). The median platelet count was 758×109/L (range 479–2903). Thrombosis prior to and following diagnosis was noted in 20% and 17% of patients. Six patients were JAK2V617F and two patients were CALR positive on repeat screening. NGS results showed that 24 of 27 patients harboured no mutations. Four mutations were noted in three patients.There was no evidence of clonality for the majority of patients with suspected TN-ET with targeted NGS analysis. Detection of driver mutations in those who were previously screened suggests that regular rescreening is required. This study also questions the diagnosis of TN-ET without the existence of a clonal marker. |
| Databáze: | OpenAIRE |
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