From: Comparison of Germline versus Somatic BAP1 Mutations for Risk of Metastasis in Uveal Melanoma
Variables | BAP1 germline | BAP1 somatic | BAP1 negative | Pairwise comparisons (P-value) | ||
---|---|---|---|---|---|---|
N=11 (0.08) (frequency) | N=43 (0.30) (frequency) | N=88 (0.62) (frequency) | Germline/Somatic | Germline/Negative | Somatic/Negative | |
Metastases | ||||||
 Yes N=59 (0.42) | 4 (0.36) | 32 (0.74) | 23 (0.26) | 0.03 a | 0.72a | <0.001 a |
 No N=83 (0.58) | 7 (0.64) | 11 (0.26) | 65 (0.74) |  |  |  |
Time to metastasis (months) (N=59) | N=4 (0.07) | N=32 (0.54) | N=23 (0.38) | 0.07b | 0.50b | 0.04 c |
 Median (19.0 months) | 37.5 | 16.0 | 26.0 | |||
 Mean±SD (26.4±20.9) | 35.0±15.8 | 23±22.5 | 29.7±19.2 | |||
 Range (0-107) | 16-49 | 2-45,90,107d | 0-84 | |||
Follow-up time (months) in tumors with no metastasis (N=83) | N=7 (0.08) | N=11 (0.13) | N=65 (0.78) | 0.59c | 0.25c | 0.33c |
 Median (56.0 months) | 24 | 54.0 | 58.0 | |||
 Mean±SD (59.8±39.0) | 43.7±39.3 | 49.9±30.0 | 63.2±40.1 | |||
 Range (4-191) | 4-109 | 8-90 | 5-191 | |||
Cohort | ||||||
 1 | 6 (0.54) | 27 (0.63) | 57 (0.65) | 0.73a | 0.74a | 0.85a |
 2 | 5 (0.46) | 16 (0.37) | 31 (0.35) | |||
Source of biopsied sample | ||||||
 FNA | 10 (0.91) | 36 (0.84) | 73 (0.83) | 0.68a | 0.69a | 1.00a |
 Enucleated tumor | 1 (0.09) | 7 (0.16) | 15 (0.17) | |||
BAP1-TPDS personal or family history (N=79 reports)e | ||||||
 Yes, syndromic tumors present (N=29, 0.37) | 8 (1.00) | 10 (0.44) | 11 (0.23) | 0.009 a | <0.001 a | 0.10 |
 No syndromic tumors (N=50, 0.63) | 0 | 13 (0.56) | 37 (0.77) | |||
Age (years) | ||||||
 Median | 59.0 | 61.8 | 52.2 | 0.07c | 0.86c | 0.002 c |
 Mean±SD | 51.9±13.6 | 61.2±12.8 | 53.1±15.0, | |||
 Range | 22-67 | 28-88 | 14-84 | |||
Sex | ||||||
 Male | 7 (0.64) | 25 (0.58) | 45 (0.51) | 1.00a | 0.53a | 0.46a |
 Female | 4 (0.36) | 18 (0.42) | 43 (0.49) | |||
Chromosome 3 | ||||||
 Disomy | 1 (0.09) | 3 (0.07) | 59 (0.67) | 1.0a | <0.001 a | <0.001 a |
 Monosomy, partial monosomy (N=2), mosaic (N=5) | 10 (0.91) | 40 (0.93) | 26 (0.33) | |||
Tumor diameter (mm) | ||||||
 Median | 14.0 | 14.0 | 11.5 | 0.70c | 0.23c | 0.003 c |
 Mean±SD | 13.4±4.4 | 13.9±3.9 | 11.7±4.0, | |||
 Range | 8.0-20.0 | 6.0-21.5 | 5.0-22.0 | |||
Tumor thickness (mm) | ||||||
 Median | 6.6 | 7.0 | 5.0 | 0.41c | 0.51c | 0.002 c |
 Mean±SD | 6.5±3.6 | 7.5±3.5 | 5.6±2.9, | |||
 Range | 1.5-12.3 | 2.0-16.5 | 1.0-13.1 | |||
Ciliary body involvement | ||||||
 Absent | 8 (0.73) | 28 (0.65) | 74 (0.84) | 0.73a | 0.40a | 0.02 a |
 Present | 3 (0.27) | 15 (0.35) | 14 (0.14) |