A 13-Gene Panel Targeted To Investigate CLL By Next-Generation Amplicon Deep-Sequencing (NGS) Can Be Successfully Implemented In Routine Diagnostics
Kohlmann A, Roller A, Albuquerque A et al.
Key Points:
Sensitive deep-sequencing assay (NGS)for detection of mutations in 13 genes (ATM, BIRC3, BRAF (V600), FBXW7, KLHL6, KRAS, NOTCH1 (PEST domain), NRAS, MYD88, POT1, SF3B1 (HEAT repeats), TP53, and XPO1) developed.
13-gene NGS found to be as good as capillary Sanger sequencing or alternative amplicon deep-sequencing assays (454 LifeSciences or Illumina MiSeq) in detecting mutations in 8 of 13 genes.
13-gene NGS panel very sensitive and can detect mutations even if burden as low as 3% with clone size of < 20%.
Implications:
- 13-gene NGS sensitive, as good as previously described technologies in detecting CLL relevant mutations and more comprehensive (assess 13 genes).
View the original abstract on the ASH website.
