Table 1: New generation sequencing (NGS) results from a molecular biology study of patient specimens.
Specimen/variant: Collection date | Myelodysplastic Syndromes NGS Panel | Whole Exome NGS analysis | ||||
p.Phe522Cys | p.Asn822Thr | p.Lys700Glu | p.Phe522Cys | p.Asn822Thr | p.Lys700Glu | |
KIT | SF3B1 | KIT | SF3B1 | |||
Variant Allele Frequency (VAF) (%) | Variant Allele Frequency (VAF) (%) | |||||
Diagnostic BM: 12/4/2013 | NA | 0 | 18.5* | 42.1 | 0 | NA |
Diagnostic PB: 12/5/2013 | 1.20 | 0 | 48.0 | - | - | - |
PB 1/7/2014* | 1.68 | - | 1.11 | - | - | - |
PB 1/21/2014* | 0.61 | - | 1.37 | - | - | - |
BM 3/3/2014* | 1.16 | - | 2.92 | - | - | - |
PB 5/12/2014* | 1.07 | - | 2.08 | - | - | - |
PB 8/12/2014* | 0.60 | - | 0.88 | - | - | - |
PB 9/11/2014* | 0.83 | - | 3.45 | - | - | - |
PB 11/12/2014* | 0.93 | - | NA | - | - | - |
PB 12/10/2015* | 0.84 | - | NA | - | - | - |
PB 2/3/2015* | 0.46 | - | NA | 0 | 0 | 0 |
PB 4/11/2016 | 0 | 0 | 0 | 0 | 0 | 0 |
Relapse PB: 6/28/2016 | 7.67 | 11.2 | 11.8 | 10.4 | NA | 14.1 |
PB 7/16/2016 | 1.81 | 4.92 | 4.50 | - | - | - |
PB 8/8/2016 | 2.24 | 3.49 | 3.81 | - | - | - |
NA - Non-Assessable measurement (less than 5 variant reads or 10 total reads); *Sample analyzed or result obtained with ultra-deep sequencing.