Quantitative PCR Assessment of JAK2 Mutational Status in Philadelphia-Chromosome Negative Chronic Myeloproliferative Disorders - The JAK2 V617F Mutation Is an Event in an Early Stem Cell and the Clonal Involvement of Different Haematopoietic Cells Varies between Individual Patients.

Introduction: The JAK2V617F mutation is believed to occur in an early stem cell. Analysis of the JAK2mutational status of patients suspected of a chronic myeloproliferative disorder has already been widely introduced into the diagnostic procedure. The ability to determine the size of the mutated clone and to monitor its evolution over time would be of great interest. Most methods are based on sequencing and qualitative or semi-quantitative PCR methods with limited sensitivity We present a highly sensitive real-time quantitative PCR assay, and have determined the percentage of mutated alleles in granulocytes, monocytes, T-lymphocytes and B-lymphocytes.