Table 1 of Ganguly, Mol Vis 2010; 16:1292-1303.
Table 1. Clinical feature of the individuals with retinoblastoma and the tumors.
Patient description | RB1 mutation* |
Laterality |
Differentiation |
Clinical features | ||||||
---|---|---|---|---|---|---|---|---|---|---|
Age |
Gender |
Retino-blastoma Stage ICRB* | Growth | Optic nerve invasion | Iris neo-vascularization | Retinal detachment | Necrosis (%) | |||
13 months | Female | p.E125X, exon 3; germline | Bilateral | well, poor | E | 40 | ||||
9 months | Female | g.73774G>T, exon 13, E413X; germline | Bilateral | well, variable | E | Endo/exo-phytic | No | Not reported | Yes | 20 |
15 months | Female | g.76490A>G, +4 position of intron 14; LOH; somatic | Unilateral | poor | E | Endophytic | No | Yes | Yes | 10 |
5 years | Male | g.153358G>A, +5 position of intron 19; LOH;somatic | Unilateral | poor | D | Endophytic | No | No | Yes | 20 |
4 years | Female | RB1 gene duplication; | Unilateral | poor | E | Endo/exo-phytic | No | Not reported | Yes | 80 |
12 months | Female | Promoter methylation; somatic | Unilateral | well, variable | E | Endo/exo-phytic | No | No | Yes | 50 |