Table 1.
Risk of OPG varies with mutations in different regions of the NF1 gene.
| (A) | |||||||
|---|---|---|---|---|---|---|---|
| Region (aa) | OPG n (%) N = 101 | no-OPG n (%) N = 209 | Sensitivity | Specificity | OR | 95% CI | P-value |
| CSRD (543–909) | 22 (21.78) | 25 (11.96) | 0.22 | 0.88 | 2.05 | 1.09–3.86 | 0.028 |
| TBD (1,095–1,197) | 4 (3.96) | 14 (6.7) | 0.04 | 0.93 | 0.57 | 0.18–1.79 | 0.339 |
| GRD (1,198–1,530) | 13 (12.87) | 29 (13.88) | 0.13 | 0.86 | 0.92 | 0.45–1.85 | 0.809 |
| Sec/PH (1,560–1,816) | 7 (6.93) | 11 (5.26) | 0.07 | 0.95 | 1.34 | 0.50–3.57 | 0.558 |
| HLR (1,825–2,428) | 8 (7.92) | 40 (19.14) | 0.08 | 0.81 | 0.36 | 0.16–0.81 | 0.013 |
| NLS (2,534-2,550) | 0 (0) | 0 (0) | n/a | n/a | n/a | n/a | n/a |
| SBR (2,619–2,719) | 1 (0.99) | 7 (3.35) | 0.01 | 0.97 | 0.29 | 0.35–2.38 | 0.248 |
| CTD (2,260–2,817) | 9 (8.91) | 23 (11) | 0.09 | 0.89 | 0.79 | 0.352–1.78 | 0.571 |
| Other | 46 (45.54) | 83 (39.71) | 0.46 | 0.6 | 1.27 | 0.79–2.05 | 0.39 |
| (B) | |||||||
| Region (aa) | OPG n (%) N = 127 | no-OPG n (%) N = 254 | Sensitivity | Specificity | OR | 95% CI | P-value |
| CSRD (543–909) | 29 (22.83) | 30 (11.81) | 0.23 | 0.88 | 2.21 | 1.26–3.88 | 0.005 |
| TBD (1,095–1,197) | 4 (3.15) | 15 (5.91) | 0.03 | 0.94 | 0.52 | 0.17–1.59 | 0.252 |
| GRD (1,198–1,530) | 16 (12.6) | 38 (14.96) | 0.13 | 0.85 | 0.82 | 0.44–1.53 | 0.534 |
| Sec/PH (1,560–1,816) | 10 (7.87) | 13 (5.12) | 0.08 | 0.95 | 1.58 | 0.67–3.72 | 0.291 |
| HLR (1,825–2,428) | 11 (8.66) | 49 (19.29) | 0.09 | 0.81 | 0.4 | 0.2–0.8 | 0.009 |
| NLS (2,534–2,550) | 0 (0) | 0 (0) | 0.01 | 1 | n/a | n/a | n/a |
| SBR (2,619–2,719) | 1 (0.79) | 8 (3.15) | 0.02 | 0.96 | 0.44 | 0.09–2.05 | 0.292 |
| CTD (2,260–2,817) | 12 (9.45) | 27 (10.63) | 0.13 | 0.87 | 1.07 | 0.57–2.02 | 0.829 |
| Other | 56 (44.09) | 101 (39.76) | 0.44 | 0.6 | 1.19 | 0.78–1.84 | 0.418 |
| (C) | |||||||
| Region (aa) | OPG n (%) N = 101 | no-OPG n (%) N = 209 | Sensitivity | Specificity | OR | 95% CI | P-value |
| 1 (1–939) | 61 (60.4) | 82 (39.23) | 0.6 | 0.61 | 2.36 | 1.45–3.84 | <0.001 |
| 2 (940–1,878) | 27 (26.73) | 81 (38.76) | 0.27 | 0.61 | 0.58 | 0.34–0.97 | 0.038 |
| 3 (1,879–2,817) | 13 (12.87) | 46 (22.01) | 0.13 | 0.78 | 0.52 | 0.27–1.02 | 0.058 |
| (D) | |||||||
| Region (aa) | OPG n (%) N = 127 | no-OPG n (%) N = 254 | Sensitivity | Specificity | OR | 95% CI | P-value |
| 5′ (1–939) | 74 (8.27) | 100 (39.37) | 0.58 | 0.61 | 2.15 | 1.39–3.32 | <0.001 |
| Middle (940–1,878) | 35 (27.56) | 124 (38.19) | 0.28 | 0.51 | 0.4 | 0.25–0.63 | <0.001 |
| 3′ (1,879–2,817) | 18 (14.17) | 57 (22.44) | 0.14 | 0.78 | 0.57 | 0.32–1.02 | 0.058 |
(A–D) Tables summarize the specificity, sensitivity and odds ratios of OPG when the NF1 mutation occurs (A,B) within specific predicted neurofibromin functional domains or (C,D) within each tertile of the NF1 gene. Analysis of the Anastasaki cohort (A,C) and the combined Anastasaki and Xu cohorts (B,D). Of note, the CTD encompasses the HLR, NLS and SBR domains. Statistically significant values appear in bold. OPG, optic pathway glioma; OR, odds ratios.