Quantitative Assay of Mutated Nucleophosmin in Acute Myeloid Leukemia

Background: In our previous work, we provided strong evidence that nucleophosmin (NPM) gene mutation has an important role in leukemogenesis of primary acute myeloid leukemia (AML). Furthermore, we speculated a new targeted therapy in patients with primary AML and bearing mutated NPM (mNPM). Based on these results together with findings of other researchers, it was essential to develop a method for accurate detection of mNPM. Methods: Our method based on utilizing the most recent flow cytometeric techniques and instruments in measuring mNPM. Attributed to their availability and technical feasibility, we used human leukemia cell lines to validate our method. Results: The main findings were differential expression of wild-type NPM (wtNPM) within the same sample. Furthermore flow cytometry (FCM) was a simple straightforward tool for quantitative assay of mNPM. Conclusions: In this work we developed an innovative technique that could enable quantitative assay of mNPM, and ease its use as a biomarker in cytogenetic and molecular prognostication of primary AML. In addition the study suggested that FCM could differentiate mNPM expression within cells of the same patient thus could be used for monitoring of minimal residual disease. J Hematol. 2019;8(3):111-120 doi: https://doi.org/10.14740/jh390