Philadelphia-Negative Myeloproliferative Neoplasms: Laboratory Workup in the Era of Next-Generation Sequencing

To review the impact of next-generation sequencing (NGS) on laboratory approach of myeloproliferative neoplasms (MPNs).

Next-generation sequencing has provided valuable information on the mutational landscape of MPNs and has been used for various applications, including diagnosis, risk stratification, monitoring of residual disease or disease progression, and target therapy. Most commonly, targeted sequencing of a panel of genes that have been shown to be recurrently mutated in myeloid neoplasms is used. Although numerous studies have shown the benefit of using NGS in the routine clinical care of MPN patients, the complexity of NGS data and how these data may contribute to the clinical outcome have limited the development of a standard clinical guideline. We review recent literature and discuss how to interpret and use NGS data in the clinical care of MPN patients.