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Genetic Testing for the Diagnosis of Essential Thrombocythemia (ET)

Focus of Report
This report evaluates the clinical utility of genotyping of calreticulin (CALR), Janus kinase 2 (JAK2), and thrombopoietin receptor (MPL) gene variants to improve the diagnosis of patients suspected of essential thrombocythemia (ET).

Health Problem
ET is one of several classic myeloproliferative neoplasms (MPNs). MPNs are hematological diseases that are characterized by the overproduction of mature blood cells (Campbell and Green, 2006). MPNs include chronic myeloid leukemia (CML), polycythemia vera (PV), ET, and primary myelofibrosis (PMF) (Tefferi and Vardiman, 2008). CML is defined by the presence of the breakpoint cluster region-Abelson (BCR-ABL) (Philadelphia chromosome fusion gene) (Tefferi and Vardiman, 2008). PV, ET, and PMF are all BCR-ABL chromosome negative and constitute the BCR-ABL–negative MPNs (Tefferi and Vardiman, 2008; Tefferi, 2014a). This report focuses on ET but first introduces general information pertinent to the BCR-ABL–negative MPNs before specifically addressing ET.

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