AML 8-Gene AmpliSeq Panel

Overview

The AML 8-gene AmpliSeq panel is an Ion Torrent AmpliSeq amplicon-based sequencing assay covering eight recurrently mutated AML genes: TP53, DNMT3A, IDH1, IDH2, ASXL1, SRSF2, U2AF1, and SF3B1. Amplicon sequencing with high depth enables sensitive detection of low-variant-allele-frequency mutations for serial clonal monitoring during therapy.

Used by

  • Ion AmpliSeq 8-gene amplicon panel applied to 45 AML/MDS patients on the WashU decitabine trial to track serial mutation clearance; TP53 mutations cleared to VAF <5% in all responders, but founding-clone VAFs at maximum clearance ranged from 0.06% to 18.43%, confirming incomplete eradication of the mutant clone. PMID:27959731

Notes

  • Genes covered: TP53, DNMT3A, IDH1, IDH2, ASXL1, SRSF2, U2AF1, SF3B1.
  • Ion Torrent AmpliSeq chemistry; high amplicon depth enables sensitive VAF quantitation at <1% allele frequency.
  • Used in 45 patients from the extension cohort where full exome sequencing was not available.
  • Complementary to the 264-gene enhanced WES approach in the same study (39 patients); together, 84/116 patients had sequencing data.
  • Serial sampling tracked mutation dynamics across treatment cycles.

Sources

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