Sensitive Detection of BCR-ABL Mutations Using SABER and MALDI-TOF Mass Spectrometry

In this application note, Dr Darryl Irwin uses the single allele base extension reaction (SABER) method and MALDI-TOF mass spectrometry to determine whether key BCR-ABL mutations for a cohort of chronic myeloid leukemia patients could be reliably detected at low frequencies (<1%). Mutations may be present below the detection level using conventional direct sequencing or mass spec with standard primer extension. Here, the ability to detect mutations at the commencement of and during second generation tyrosine kinase inhibitor therapy using Sequenom®’s MassARRAY® system and direct sequencing are compared.