Next-Generation Sequencing in Myeloproliferative Neoplasms: Is This Indicated in All Patients?

Abstract

Purpose of review: To discuss the impact that next-generation sequencing has had on myeloproliferative neoplasm prognosis and treatment response.

Recent findings: Extended genetic testing has led to a more comprehensive understanding of the mutational landscape in the myeloproliferative neoplasms. More refined prognostic models that predict disease course have therefore been developed. In myelofibrosis, this has led to a more nuanced prognostic assessment which is a necessary tool for the identification of potential transplant patients. The extended molecular profile may also help set expectations for ruxolitinib response duration. In essential thrombocythemia and polycythemia vera, elucidation of the molecular landscape beyond driving mutations may identify patients at risk for more rapid progression. However, results from testing are less likely to lead to action, at least in the current era. Use of next-generation sequencing has become routine in myelofibrosis, as a means of identifying patients at highest risk for progression, who may be eligible for transplantation. Extended genetic sequencing is still investigational in essential thrombocytosis and polycythemia vera, and not recommended by guidelines.

Keywords: Essential thrombocythemia; Myelofibrosis; Myeloproliferative neoplasms; Next-generation sequencing; Polycythemia vera.