Table 1.
Patient | T4 | T7 | T11 | T14 | T18 |
---|---|---|---|---|---|
Age [month] | 6 | 28 | 11 | 24 | 21 |
Sex | male | female | male | female | female |
Laterality | UL | UL | UL | UL | UL |
ICRB group | E | E | E | E | E |
Chemo | NC | NC | NC | NC | NC |
RB1 mutation [RB tumor tissue and tumor cell lines] | c.2359 C > T IVS12 + 1 G > A | c.2371 A > T LOH | no mutation found | homozygous deletion | complex rearragement with partial LOH and dosis alteration |
Histopathological features | T4 | T7 | T11 | T14 | T18 |
Invasion of choroid | no | no | yes | no | no |
Invasion of optic nerve | no | no | yes | yes | yes |
TFF1 expression | T4 | T7 | T11 | T14 | T18 |
Tumor IHC | no | partial | yes | yes | yes |
NGS analysis | no | low | moderat | high | high |
Aqueous humor | ND | no | no | yes | yes |
Cell culture supernatant | ND | no | yes | yes | yes |
RB subgroup | 1 | 1 or 2 | 2 | 2 | 2 |
UL unilateral, NC no chemotherapy, RB retinoblastoma, ICRB International Classification of Retinoblastoma, ND not done, NA not analyzed, MYCN N-myc proto-oncogene protein, amp amplification.