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Table 2 Description of demographic and tumor variables with pairwise comparisons for 11 tumors with germline BAP1 mutations, 43 with BAP1 somatic mutations and 88 with no BAP1 mutations

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)
  1. aAssociation test performed using two-tailed Fisher Exact or Chi-square tests
  2. bReported P-values are calculated from a normal approximation of the Mann Whitney test statistic
  3. cTests of means of quantitative variables performed using Mann-Whitney U tests
  4. dThe time for metastasis for 30 of the tumors with somatic mutations was 2-45 months. The time to metastasis for the remaining two tumors was 90 and 107 months
  5. eBAP1-TPDS, BAP1-tumor predisposition syndrome as defined in OMIM #614327 [4] and Pilarski et al [5]
  6. Figures is bold indicate significant P-values <0.05