The Roles of Genetics and Epigenetics in the Diagnosis of Chronic Myeloproliferative Disorders

The diagnosis of the chronic myeloproliferative disorders, polycythemia vera, idiopathic myelofibrosis, and essential thrombocytosis is confounded by their low frequency of occurrence, phenotypic variability over time, phenotypic mimicry among themselves, and phenotypic mimicry between them and other malignant and benign disorders of the blood. Recent discoveries of epigenetic and genetic abnormalities shared by these disorders have not only provided insight into their pathogenesis but also an opportunity to reassess the diagnostic approaches to these disorders. The purpose of this review is to integrate the information provided by these new genetic and epigenetic markers into the diagnostic strategies for polycythemia vera, idiopathic myelofibrosis, and essential thrombocytosis.