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Mutation of the NPM1 (Nucleophosmin) gene is one of the most frequently observed acquired mutations in acute myeloid leukaemia (AML). Of the many types of NPM1 mutants, the type A mutation accounts for 80%. Monitoring of this marker is routinely indicated in the management of AML. It is currently monitored using RT-qPCR. The results are expressed as a "mutated/normal" ratio of NPM1 mutants, and require the use of a reference gene.digital PCR is a recent technology that enables absolute quantification of a rare genetic event. The strengths of digital PCR are numerous: the reference gene is identical to the target of interest, the sensitivity is virtually identical to that of RT-qPCR, and there is no need to use plasmid assays. In this context, we have developed a digital PCR method for the NPM1 type A biomarker by determining the optimum parameters of the technique for this detection. In conclusion, digital PCR appears to be a relevant tool for monitoring residual disease.
About the author
Especialista assistente em Hematologia, Instituto Gustave ROUSSY, Villejuif, França. Antigo residente em hematologia, Hospital Universitário de Grenoble, França. Médico de clínica geral, Faculdade de Medicina, Teerão, Irão.
