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High-count monoclonal B-cell lymphocytosis (MBL) is an asymptomatic state that can evolve into chronic lymphocytic leukemia (CLL) when B-cells gain a cancer-inducing combination of driver mutations. In a recently published study, MBL patient samples were analyzed using bulk targeted deep sequencing. The researchers found that in a subset of cases, there were a significant number of mutations -- in many cases, affecting the same genes.

To further gain insights into these MBL patient samples, single-cell DNA sequencing was performed on them using the Mission Bio Tapestri Platform and a 33-gene CLL amplicon panel. This application note shows that previously generated data from bulk sequencing were highly correlative to the newly generated single-cell data. The researchers unambiguously resolved co-occurrence and zygosity of all detected mutations to track clonal evolution and population expansion over time. These results show that single-cell DNA sequencing is a powerful tool for resolving clonal heterogeneity.

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