Repeat JAK2 V617F testing in patients with suspected essential thrombocythaemia.

摘要: Molecular investigation for characteristic initiating mutations, in addition to clinical, haematological and histopathological evidence, has become an integral part of myeloproliferative neoplasm (MPN) diagnosis. Detection the JAK2 V617F mutation those within CALR exon 9, MPL 10 12 can be performed by a variety methodologies each possessing its own characteristics sensitivity, specificity clinical applicability.1 Mutation identification been traditionally logical, stepwise fashion guided other presenting features or increasingly simultaneous manner next-generation sequencing (NGS). Up 15% patients with MPN essential thrombocythaemia (ET) have no evidence canonical mutations (termed ‘triple-negative’) are associated distinct course particularly regard thrombotic risk therefore influencing treatment.2 Low allele burdens themselves insufficient result diagnosis absence …