. 2019 Feb 11;103(5):721–724. doi: 10.1136/bjophthalmol-2018-313005

Table 1.

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

Patient	cfDNA conc (ng/μL)	RB1 mutation	gDNA	tDNA	cfDNA
Patient	cfDNA conc (ng/μL)	RB1 mutation	% mutation	Result /% mutation	Result /% mutation
E1	2.12	c.1363C>T p.(Arg455*)		76	91
E1	2.12	LOH		Complete LOH	Complete LOH
E2	228	c.751C>T p.(Arg251*)		91	99
E2	228	LOH		Complete LOH	Complete LOH
E3	0.183	c.1959dupA		76	87
E3	0.183	LOH		Partial LOH	Partial LOH
E4	394	c.763C>T p.(Arg255*)		99	90
E4	394	LOH		Partial LOH	Partial LOH
E5	0.169	c.1251_1252delAA		91	94
E5	0.169	LOH		Partial LOH	Partial LOH
E6	0.141	Deletion exons 1–17		Deletion exons 1–17	Deletion exons 2–17
E6	0.141	Deletion exons 25–27		Deletion exons 25–27	Deletion exons 24–27
E7	244	c.1496_97dup p.Arg500Alafs*20	8	90	94
E7	244	LOH		Partial LOH	Partial LOH
E8	1.96	c.1072 C>T p.(Arg358*)	21†	97	100
E8	1.96	LOH		Partial LOH	Partial LOH
E9	1.01	c.958C>T p.(Arg320*)		43	44
E9	1.01	c.1981C>T p.(Arg661*)		46	46
E10	1.38	c.147delT		38	46
E10	1.38	c.1330C>T p.(Gln444*)		50	44

IVC 1	<0.100	c.751C>T p.(Arg251*)†		N/A N/A	49
IVC 1	<0.100	c.1654C>T (Arg552*)	45		58
IVC 2	<0.100	LOH†			Partial LOH
IVC 2	<0.100	c.2490–1_2490delGA	54		96

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.