Patient | cfDNA conc (ng/ul) | RB1 mutation | gDNA | tDNA | cfDNA |
% mutation | Result / % mutation | Result / % mutation | |||
E1 | 2.12 | c.1363C>T p.(Arg455*) | 76 | 91 | |
LOH | Complete LOH | Complete LOH | |||
E2 | 228 | c.751C>T p.(Arg251*) | 91 | 99 | |
LOH | Complete LOH | Complete LOH | |||
E3 | 0.183 | c.1959dupA | 76 | 87 | |
LOH | Partial LOH | Partial LOH | |||
E4 | 394 | c.763C>T p.(Arg255*) | 99 | 90 | |
LOH | Partial LOH | Partial LOH | |||
E5 | 0.169 | c.1251_1252delAA | 91 | 94 | |
LOH | Partial LOH | Partial LOH | |||
E6 | 0.141 | Deletion exons 1–17 | Deletion exons 1–17 | Deletion exons 2–17 | |
Deletion exons 25–27 | Deletion exons 25–27 | Deletion exons 24–27 | |||
E7 | 244 | c.1496_97dup p.Arg500Alafs*20 | 8 | 90 | 94 |
LOH | Partial LOH | Partial LOH | |||
E8 | 1.96 | c.1072 C>T p.(Arg358*) | 21† | 97 | 100 |
LOH | Partial LOH | Partial LOH | |||
E9 | 1.01 | c.958C>T p.(Arg320*) | 43 | 44 | |
c.1981C>T p.(Arg661*) | 46 | 46 | |||
E10 | 1.38 | c.147delT | 38 | 46 | |
c.1330C>T p.(Gln444*) | 50 | 44 | |||
IVC 1 | <0.100 | LOH† | N/A | Complete LOH | |
c.1666C>T p.(Arg556*) | 39 | 100 | |||
IVC 2 | <0.100 | LOH† | N/A | Partial LOH | |
c.1078dupA p.(Ser360Lysfs*2)† | 80 |
Results are shown as percentage of mutation sequencing reads in gDNA, tDNA and cfDNA where appropriate. Complete LOH corresponds to LOH of whole chromosome 13; partial LOH indicates LOH of parts of chromosome 13, encompassing 13q14.
†Previously undetected.
AH, aqueous humour; IVC, intravitreal chemotherapy; LOH, loss of heterozygosity; MPS, massively parallel sequencing; RB, retinoblastoma; cfDNA, cell-free DNA; gDNA, genomic DNA; tDNA, tumour DNA.