Table 2.
Summary of mutations identified in serial tumor samples (S1, S2, and S3) using MALDI-TOF mass spectrometry and Illumina TruSeq sequencing and their allele frequencies
Mutations identified | Methods | Allele frequency (%) | Target coverage at variant site | Mean target coverage | |||||||
---|---|---|---|---|---|---|---|---|---|---|---|
MALDI-TOF | TruSeq | S1 | S2 | S3 | S1 | S2 | S3 | S1 | S2 | S3 | |
APC c.4285delC (p.Gln1429fs) | Not tested by panel | Detected | 52 | NA | 85 | 7378× | NA | 6420× | 5115× | NA | 4332× |
BRAF c.1742A>G (p.Asn581Ser) | Not tested by panel | Detected | 30 | NA | 42 | 8771× | NA | 9260× | 5115× | NA | 4332× |
ERBB2c.2264T>C (p.Leu755Ser) | Detected | Detected | 33 | 57 | 68 | 8171× | NA | 7056× | 5115× | NA | 4332× |
S1, S2, and S3 represent sample 1 (primary rectal tumor collected in 2008), sample 2 (tumor from 2011 liver resection), and sample 3 (tumor from 2013 liver biopsy), respectively. S1 and S3 were profiled using Illumina TruSeq sequencing and S2 was profiled using MALDI-TOF mass spectrometry.
MALDI-TOF, matrix-assisted laser desorption/ionization time of flight; NA, not applicable.