Affiliations: [a] Department of Pathology, The University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA | [b] Department of Pathology, The South Bend Medical Foundation, Inc., South Bend, IN 46601, USA
Correspondence:
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Corresponding author: S. Terence Dunn, Ph.D., Department of Pathology, University of Oklahoma Health Sciences Center, 940 Stanton L Young Blvd., Biomedical Sciences Building 451, Oklahoma City, OK 73104, USA. E-mail: terry-dunn@ouhsc.edu.
Abstract: The chronic myeloproliferative disorders (CMPDs) are a heterogeneous group of clonal hematopoietic diseases characterized by production of increased numbers of mature leukocytes, erythrocytes, and/or platelets. Clinically these disorders are often insidious in onset, produce nonspecific thrombotic or hemorrhagic complications, and can be easily confused with a variety of benign, reactive conditions. Thus, confirming a CMPD can be difficult as it is often a diagnosis of exclusion. The recently identified JAK2V617F mutation is frequently present in the classic CMPDs polycythemia vera, essential thrombocythemia, and chronic idiopathic myelofibrosis. JAK2V617F determination has proven to be a useful diagnostic tool in patients with some clinical features suggestive for a CMPD, and may have benefit as a way to monitor known disease. There are several published molecular assays for the JAK2V617F target, of variable sensitivity and technical complexity, many of which are not easily replicated in a typical clinical laboratory. We present a robust, sensitive PCR/melt curve assay for the JAK2V617F mutation which uses the widely available Roche LightCycler® platform, and is thus applicable to many clinical molecular laboratories.
