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A sensitive detection method for MPLW515L or MPLW515K mutation in myeloproliferative disorders

Jianxiang Chi, Chryso Pierides, Andrie Mitsidou, Andrie Miltiadou, Petroula Gerasimou, Katerina Nicolaou1 and Paul Costeas

Myeloproliferative Leukemia Virus (MPL) appearsdistinctly associated withpolycythemia vera (PV), essential thrombocythemia (ET) and Primary myelofibrosis(PMF). Currently available methods for the detection of MPL mutations are considered amongst diagnostic laboratories as expensive and hard to follow. Here we propose asimple and robust in-house multiplex semi-nested polymerase chain reaction (PCR)assay for the detection of both the MPLW515L and MPLW515K mutations loads for as lowas 0.5% for both mutations in a single reaction. The assay is based on specific primersdesigned for each mutation and is recommended for the screening of MPLW515L/Kmutations in patients suspected to have a myeloproliferative disorder. Unlike thecommercially available kit and the various available detection methods for thesemutations, this assay is both cost-effective and sensitive. The simplicity of this assaycan ensure its wide use in almost all clinical diagnostic laboratories.