Table 3. Associations Between Phenotype and Germline Pathogenic Variant Identification Among Probands With a Germline Pathogenic Variant by Its Theoretical Association With RB Protein.
| Characteristic | Germline pathogenic variant | |||||
|---|---|---|---|---|---|---|
| Identification | P value | Probands by theoretical association with RB protein | P value | |||
| Yes (n = 606) | No (n = 765) | Absence of RB protein (n = 537) | Presence of RB protein (n = 69) | |||
| Age at diagnosis | ||||||
| Mean (SD), mo | 12.7 (11.5) | 26.4 (25.1) | <.001a | 12.3 (11.3) (n = 457) | 16.3 (13.2) (n = 55) | .01a |
| Median (IQR), mo | 10 (5.0-17.0) | 23 (12.0-34.0) | NA | 9.0 (5.0-16.0) | 12 (7.5- 24.0) | NA |
| NA, No. (%) | 94 (15.5) | 160 (20.9) | NA | 80 (14.9) | 14 (20.3) | NA |
| Sex, No. (%) | ||||||
| Male | 304 (50.2) | 346 (45.2) | .07b | 270 (50.3) | 34 (49.3) | .87b |
| Female | 302 (49.8) | 419 (54.8) | 267 (49.7) | 35 (50.7) | ||
| Laterality, No. (%) | ||||||
| Unilateral | 109 (18.0) | 730 (95.4) | <.001b | 85 (15.8) | 24 (34.8) | <.001b |
| Bilateral | 497 (82.0) | 35 (4.6) | 452 (84.2) | 45 (65.2) | ||
| IIRC at diagnosis, No. (%) | ||||||
| Group A, B, or C | 71 (15.9) | 66 (12.1) | .08b | 59 (14.7) | 12 (26.1) | .047b |
| Group D or E | 375 (84.1) | 480 (87.9) | 341 (85.3) | 34 (73.9) | ||
| NA | 160 (26.4) | 219 (36.5) | NA | 137 (25.5) | 23 (33.3) | NA |
Abbreviations: IIRC, International Intraocular Retinoblastoma Classification; IQR, interquartile range; NA, not available; RB, retinoblastoma.
a
Wilcoxon test.
b
χ2 Test.