Abstract
Clonal evolution in UKE-1 cell line leading to an increase in JAK2 copy number
Highlights
We show that UKE-1 cells in our hands underwent clonal evolution during in vitro culture, leading to an increase of JAK2 gene copies
Throughout the range of dilutions, we found that the measured JAK2 V617F allele burden in the UKE-1/HL60 mixtures was consistently higher than expected (Figure 1)
It was found that the JAK2 V617F allele burden was consistently overestimated when Mutaquant kit was used on a range of dilution of the line UKE-1: 2.4% for 1%, 67% for 50% in mean (Cassinat, personal data)
Summary
Blood Cancer Journal (2012) 2, e66; doi:10.1038/bcj.2012.11; published online 13 April 2012. We show that UKE-1 cells in our hands underwent clonal evolution during in vitro culture, leading to an increase of JAK2 gene copies Use of these cells as a standard would cause an underestimation of the JAK2 V617F allele burden. There is an unbalanced ratio of wild-type JAK2 and JAK2 V617F within the quantification standard, leading to an underestimation of the JAK2 mutational load when using this UKE-1 cell line as the standard in the analysis of patient samples. These results highlight the possibility of clonal evolution of the UKE-1 cell line with an increase in JAK2 gene copy number. This study shows that using the UKE-1 cell line as a standard for JAK2 V617F quantification must be avoided, as cells in culture can acquire multiple copies of the JAK2 gene
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