Genetic studies in the evaluation of myeloproliferative neoplasms

Myeloproliferative neoplasms that include the specific entities of chronic myeloid leukemia, chronic neutrophilic leukemia, polycythemia vera, essential thrombocythemia, and primary myelofibrosis are characterized by the clonal expansion of hematopoietic precursor cells and consequent neoplastic production of mature cells of myeloid, erythroid, and/or megakaryocytic lineage. Genetic studies, encompassing both cytogenetic and molecular testing, play a central and ever increasing role in the assessment of these neoplasms and are the focus of this review.