Figure 3
Confirmation of subclonal SETBP1. (A) Mutant droplets were sorted, collected, and lysed for DNA. A Sanger tracing of sorted mutant droplet DNA from diagnosis revealed the SETBP1 c.2608G>A (p.D868N) mutation. (B) ddPCR at diagnosis using pooled bone marrow–derived DNA from the same patient showed a subclonal mutation at diagnosis not detected by Sanger sequencing. FAM (blue) droplets indicate the presence of mutant SETBP1 DNA; HEX (green) droplets indicate the presence of wild-type DNA; orange droplets indicate the presence of both mutant and wild-type DNA. (C) At relapse, a clonal SETBP1 mutation is clearly visible on ddPCR and Sanger sequencing. Percentages indicate the allelic fraction of mutant SETBP1.

Confirmation of subclonal SETBP1. (A) Mutant droplets were sorted, collected, and lysed for DNA. A Sanger tracing of sorted mutant droplet DNA from diagnosis revealed the SETBP1 c.2608G>A (p.D868N) mutation. (B) ddPCR at diagnosis using pooled bone marrow–derived DNA from the same patient showed a subclonal mutation at diagnosis not detected by Sanger sequencing. FAM (blue) droplets indicate the presence of mutant SETBP1 DNA; HEX (green) droplets indicate the presence of wild-type DNA; orange droplets indicate the presence of both mutant and wild-type DNA. (C) At relapse, a clonal SETBP1 mutation is clearly visible on ddPCR and Sanger sequencing. Percentages indicate the allelic fraction of mutant SETBP1.

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