Correlation between Family RB1 Gene Pathogenic Variant with Clinical Features and Prognosis of Retinoblastoma under 5 Years Old

Table 1

Demographic data of the 40 children.

Category	(%)
Age	40
0 ~ 12 months	13 (32.5%)
>12 months	27 (67.5%)
12-36 months	23 (85.2%)
36-60 months	4 (14.8%)
Family genetic history	40
With family history	6 (15%)
Bilateral RB	5
Trilateral RB	1
Without family history	34 (85%)
Unilateral RB	21
Bilateral RB	12
Trilateral RB	1
Treatment	40
Interventional therapy+chemotherapy+intrathecal injection	13 (32.5%)
Chemotherapy±intrathecal injection	2 (5%)
Eyeball removal+chemotherapy±intrathecal injection	22 (55%)
Eyeball removal+vitrectomy+chemotherapy±interventional therapy±intrathecal injection	1 (2.5%)
Chemotherapy+vitrectomy	1 (2.5%)
Risk grouping	40
LR	29 (72.5%)
IR	6 (15.0%)
HR	5 (12.5%)
Prognosis	40
Survival	31 (77.5%)
Dead	6 (15.0%)
Lost follow-up	3 (7.5%)
Onset eye and genetic type	40
Unilateral RB	21
Germline inheritance/tumor gene pathogenic variant/no genetic characteristics	2/3/16
Bilateral RB	17
Germline inheritance/tumor gene pathogenic variant/no genetic characteristics	6/6/5
Trilateral RB	2
Germline inheritance/tumor gene pathogenic variant	1/1
Genotype	19
Germline inheritance	9
Frameshift pathogenic variant/base deletion or insertion/no pathogenic variant	7/1/1
Nongermline inheritance	10
Frameshift pathogenic variant/base deletion or insertion	4/6

1 case with a clear family history proband and diseased relative (mother) RB1 gene has no harmful pathogenic variants; ^#, no children underwent binocular removal.