Table 1.

Patient characteristics

Italian cohort (n = 118)French cohort (n = 238)
Year of diagnosis 1996-2022 1986-2022 
Age at diagnosis, y 56.5 (19-81) 62 (21-86) 
Sex, male 88 (74.6%) 168 (70.6%) 
Somatic mutations   
BRAFV600E 70 (59.3%) 121 (50.8%)  
MAP2K1 2 (1.7%) 10 (4.2%) 
NRAS 1 (0.8%) 1 (0.4%)  
KRAS 1 (0.8%) 4 (1.7%)  
ERK 1 (0.8%) 
Wild type or undetermined 43 (36.4%) 104 (43.7%) 
Organ involvement   
Bones 105 (89.0%) 192 (80.7%) 
Perirenal 81 (68.6%) 156 (65.5%) 
Central nervous system 60 (50.8%) 86 (36.1%) 
Pituitary gland 42 (35.6%) 58 (24.4%) 
Heart 53 (44.9%) 105 (44.1%) 
Large vessels 51 (43.2%) 143 (60.1%) 
Skin 50 (42.4%) 61 (25.6%) 
Face 33 (28.0%) 78 (32.8%) 
Lungs 35 (29.7%) 79 (33.2%) 
Italian cohort (n = 118)French cohort (n = 238)
Year of diagnosis 1996-2022 1986-2022 
Age at diagnosis, y 56.5 (19-81) 62 (21-86) 
Sex, male 88 (74.6%) 168 (70.6%) 
Somatic mutations   
BRAFV600E 70 (59.3%) 121 (50.8%)  
MAP2K1 2 (1.7%) 10 (4.2%) 
NRAS 1 (0.8%) 1 (0.4%)  
KRAS 1 (0.8%) 4 (1.7%)  
ERK 1 (0.8%) 
Wild type or undetermined 43 (36.4%) 104 (43.7%) 
Organ involvement   
Bones 105 (89.0%) 192 (80.7%) 
Perirenal 81 (68.6%) 156 (65.5%) 
Central nervous system 60 (50.8%) 86 (36.1%) 
Pituitary gland 42 (35.6%) 58 (24.4%) 
Heart 53 (44.9%) 105 (44.1%) 
Large vessels 51 (43.2%) 143 (60.1%) 
Skin 50 (42.4%) 61 (25.6%) 
Face 33 (28.0%) 78 (32.8%) 
Lungs 35 (29.7%) 79 (33.2%) 

Continuous variables are expressed as median (range). Categorical variables are expressed as n (%).

Some patients harbor 2 mutations.

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