Myeloproliferative neoplasms (MPN), previously called myeloproliferative disorders (MPD), are a group of diseases that are caused by an over production of one or more blood cell types (red cells, white cells or platelets) in the bone marrow. Myeloproliferative neoplasms (MPNs) are associated with dysregulation of tyrosine kinases, leading to abnormal downstream signalling pathways and increased cellular proliferation. Abnormally high numbers of blood cells accumulate in the bone marrow and peripheral blood leading to complications over time. Based on the presence or absence of the Philadelphia chromosome (BCR-ABL1 translocation), MPN are broadly grouped into two categories-Philadelphia positive (chronic myeloid leukemia) and Philadelphia negative (polycythemia vera, essential thrombocythemia and myelofibrosis). Chronic myeloid leukemia (CML) is characterized by the BCR-ABL1 translocation, t(9;22)(q34;q11.2),which leads to creation of the constitutively active oncogenic BCR-ABL1 fusion tyrosine kinase. This translocation is the most common abnormality in CML. The Philadelphia chromosome negative MPNs are characterized by mutations in various genes such as JAK2, MPL, PDGFRA, PDGFRB, FGFR1 and KIT
The TRUPCR® MPL Kit is a qualitative assay for the detection of MPL W515L, W515K, W515A and S505N mutations in genomic DNA from whole blood or bone marrow of subjects suspected of MyeloProliferative Neoplasms (MPN). The results from the TRUPCR® MPL Kit must be interpreted within the context of all relevant clinical and laboratory findings. An endogenous internal control has been integrated into the kit in order to check PCR inhibition.