Table 1

Main clinical characteristics of the 46 patients with ECD according to BRAFV600E status

WT (n = 11)BRAF V600E (n = 13)NA (n = 22)P
BRAF V600E versus WT*Across all 3 categories†
Median age at diagnosis, y (range) 55 (39-81) 55 (37-72) 57 (16-73) .62 .83 
Sex, male/female 9/2 8/5 16/6 .28 .54 
Involvement      
    CNS, n (%) 2 (18) 6 (46) 11 (50) .15 .20 
    Heart, n (%) 4 (36) 7 (54) 10 (45) .39 .73 
    Large vessels, n (%) 5 (45) 11 (85) 14 (64) .04 .13 
    Exophthalmos, n (%) 3 (27) 7 (54) 7 (32) .19 .32 
    Diabetes insipidus, n (%) 2 (18) 3 (23) 7 (32) .77 .67 
    Lung, n (%) 4 (36) 4 (31) 10 (45) .77 .67 
    Perirenal infiltration, n (%) 3 (27) 7 (54) 13 (59) .19 .21 
    Xanthelasma, n (%) 4 (36) 4 (31) 6 (27) .77 .87 
    Bone pain, n (%) 5 (45) 7 (54) 11 (50) .68 .92 
Death of disease progression, n (%) 2 (18) 2 (15) 5 (23) .85 .86 
WT (n = 11)BRAF V600E (n = 13)NA (n = 22)P
BRAF V600E versus WT*Across all 3 categories†
Median age at diagnosis, y (range) 55 (39-81) 55 (37-72) 57 (16-73) .62 .83 
Sex, male/female 9/2 8/5 16/6 .28 .54 
Involvement      
    CNS, n (%) 2 (18) 6 (46) 11 (50) .15 .20 
    Heart, n (%) 4 (36) 7 (54) 10 (45) .39 .73 
    Large vessels, n (%) 5 (45) 11 (85) 14 (64) .04 .13 
    Exophthalmos, n (%) 3 (27) 7 (54) 7 (32) .19 .32 
    Diabetes insipidus, n (%) 2 (18) 3 (23) 7 (32) .77 .67 
    Lung, n (%) 4 (36) 4 (31) 10 (45) .77 .67 
    Perirenal infiltration, n (%) 3 (27) 7 (54) 13 (59) .19 .21 
    Xanthelasma, n (%) 4 (36) 4 (31) 6 (27) .77 .87 
    Bone pain, n (%) 5 (45) 7 (54) 11 (50) .68 .92 
Death of disease progression, n (%) 2 (18) 2 (15) 5 (23) .85 .86 
*

P values computed using Mann-Whitney test, χ2 test, or Fisher test, as appropriate.

†

P values computed using Kruskal-Wallis test or χ2 test, as appropriate. None of these P values remains significant after Bonferroni correction for multiple testing.

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