A comparison of sequential polymerase chain reaction–based cascade testing vs next-generation sequencing in molecular profiling of myeloproliferative neoplasms: improving testing strategies in light of evolving molecular landscapes

Abstract excerpt

INTRODUCTION: Somatic mutations in the JAK2, CALR, and MPL genes are traditionally tested using a cascading reflex algorithm in BCR::ABL1-negative myeloproliferative neoplasms (MPNs). However, next-generation sequencing (NGS) has revealed that these variants may coexist, exposing limitations in current testing practices. METHODS: This pilot study analyzed 3 JAK2 p.V617F-positive MPN cases and 3 cases negative for...

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