For JAK2V617F, the most frequent mutation in myeloproliferative neoplasms, accurate determination of mutational loads is of interest at diagnosis, for phenotypic and prognostic purposes, and during follow-up for minimal residual disease assessment.
Establishing optimal quantitative-polymerase chain reaction assays for routine diagnosis and tracking of minimal residual disease in JAK2-V617F-associated myeloproliferative neoplasms: a joint European LeukemiaNet/MPN&MPNr-EuroNet (COST action BM0902) study.
QuanTAS-PCR is a simple, cost-efficient, closed-tube method for JAK2V617F mutation quantification that can detect very low levels of the mutant allele, thus enabling analysis of minimal residual disease.
Monitoring of minimal residual disease in patients with core binding factor acute myeloid leukemia and the impact of C-KIT, FLT3, and JAK2 mutations on clinical outcome.
The combination of ARMS-PCR and capillary electrophoresis enables quantitative assay of JAK2V617F mutation, which helps in chronic MPD diagnosis and estimation of minimal residual disease.
In conclusion, allogeneic stem cell transplantation after dose-reduced conditioning induces high rates of molecular remission in JAK2-positive patients with myelofibrosis, and quantification of V617F-JAK2 mutation by real-time PCR allows the detection of minimal residual disease to guide adoptive immunotherapy.
Although an amplification refractory mutation system (ARMS) was shown to be slightly superior in terms of sensitivity, our real-time PCR method provides the potential for quantification of the JAK2V617F mutation, having potential future applications in the monitoring of minimal residual disease or predicting outcome of disease severity.
Our presented data shows the feasibility of the detection of JAK2 gene mutation by real-time PCR as a minimal residual disease marker after transplant.