Table 1

MPS results for enucleated (E1–10) and IVC (IVC1–2) samples

PatientcfDNA conc
RB1 mutationgDNAtDNAcfDNA
% mutationResult /% mutationResult /% mutation
E12.12c.1363C>T p.(Arg455*)7691
LOHComplete LOHComplete LOH
E2228c.751C>T p.(Arg251*)9199
LOHComplete LOHComplete LOH
LOHPartial LOHPartial LOH
E4394c.763C>T p.(Arg255*)9990
LOHPartial LOHPartial LOH
LOHPartial LOHPartial LOH
E60.141Deletion exons 1–17Deletion exons 1–17Deletion exons 2–17
Deletion exons 25–27Deletion exons 25–27Deletion exons 24–27
E7244c.1496_97dup p.Arg500Alafs*2089094
LOHPartial LOHPartial LOH
E81.96c.1072 C>T p.(Arg358*)21†97100
LOHPartial LOHPartial LOH
E91.01c.958C>T p.(Arg320*)4344
c.1981C>T p.(Arg661*)4646
c.1330C>T p.(Gln444*)5044
IVC 1<0.100c.751C>T p.(Arg251*)†N/A

c.1654C>T (Arg552*)4558
IVC 2<0.100LOH†Partial LOH
  • 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.