Molecular markers for the diagnosis of Philadelphia chromosome negative myeloproliferative disorders

Polycythemia vera, essential thrombocythemia, idiopathic myelofibrosis and chronic myelogenous leukemia have been collectively termed the myeloproliferative disorders due to similarities in their clinical presentation. With the exception of chronic myelogenous leukemia, which is characterized by the presence of the Philadelphia chromosome, the myeloproliferative disorders display no consistent cytogenetic abnormalities. Hence, the diagnosis of Polycythemia vera, essential thrombocythemia and idiopathic myelofibrosis to date relies on clinical criteria. However, several molecular aberrations have been described, which can be used as molecular markers for the diagnosis of these clinical entities. This review outlines the diagnostic assays developed and highlights the advantages and disadvantages of the following markers: (1). Endogenous Erythroid Colonies, (2). Clonality, (3). Reduced c-Mpl protein expression and (4). PRV-1 mRNA over expression.