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Table 1 Clinical, pathological and molecular characteristics of the study groups

From: Clinical, pathological and dermoscopic phenotype of MITF p.E318K carrier cutaneous melanoma patients

 

N

 

MITF+ N (%)

MITF− N (%)

ORa

Lower CI

Upper CI

p-value

Phototype

927

I

0 (0)

52 (6)

   

0.27

II

15 (75)

478 (53)

    

III

5 (25)

353 (39)

    

IV

0 (0)

24 (3)

    

Freckles

349

None

8 (4)

77 (23)

   

0.37

Rare

4 (2)

126 (38)

    

Few

7 (35)

89 (27)

    

Many

1 (5)

37 (11)

    

Hair color

932

Albino

0 (0)

1 (0)

   

0.06

Red

1 (5)

49 (5)

    

Blond

9 (43)

201 (22)

    

Blond_red

0 (0)

9 (1)

    

Brown

7 (33)

565 (62)

    

Black

4 (19)

86 (9)

    

Eye color

931

Light blue

7 (37)

214 (23)

   

0.50

Blue

1 (5)

38 (4)

    

Green

2 (11)

98 (11)

    

Grey

0 (0)

21 (2)

    

Light brown

1 (5)

206 (23)

    

Dark brown

8 (42)

324 (36)

    

Black

0 (0)

5 (1)

    

Hazel

0 (0)

6 (1)

    

Number of nevi

492

< 10

3 (17)

200 (42)

   

0.04

10–50

10 (55)

185 (39)

    

> 50

5 (28)

89 (19)

    

Histologically diagnosed Dysplastic nevi

866

Median (IQR)

0 (0–1)

0 (0–0)

   

< 0.001

0

10 (50)

769 (91)

9.93

3.59

27.53

< 0.001

1+

10 (50)

77 (9)

    

Familial

984

Spo

17 (77)

833 (87)

1.9

0.54

5.48

0.21

Fam

5 (23)

129 (13)

    

Age at first melanoma

858

Median (IQR)

44 (32.25–58.75)

49 (38.99–61.71)

   

0.20

N. of melanomas removed

983

Median (IQR)

1 (1–1.75)

1 (1–1)

   

0.02

1

16 (73)

855 (89)

3.02

0.95

8.35

0.03

2+

6 (27)

106 (11)

    

Breslow mm

930

Median (IQR)

1 (0.6–2.025)

1 (0.35–1.765)

   

0.22

Sentinel node

337

Neg

6 (27)

266 (28)

1.41

0.14

8.1

0.65

Pos

2 (9)

63 (7)

    

Stage

771

IS

2 (17)

122 (16)

   

0.65

I

8 (67)

473 (62)

    

II

2 (17)

75 (10)

    

III

0 (0)

56 (7)

    

IV

0 (0)

33 (4)

    

Pancreatic cancer in family

972

No

19 (86)

901 (94)

2.90

0.53

10.35

0.11

Yes

3 (14)

49 (5)

    

Kidney cancer in family

971

No

18 (82)

910 (95)

5.17

1.21

16.74

0.01

Yes

4 (18)

39 (5)

    

Site of first melanoma

943

Head and neck

1 (5)

74 (8)

   

0.27

Trunk

8 (40)

464 (50)

    

Arms

6 (30)

125 (14)

    

Legs

5 (25)

260 (28)

    

Histotype of first melanoma

722

Acral

2 (9)

11 (2)

   

0.04

Lentigo maligna

0 (0)

36 (5)

    

Nodular

7 (32)

132 (19)

    

SSM

13 (59)

454 (64)

    

Other

0 (0)

67 (10)

    

MC1R

576

–/–

6 (30)

165 (30)

   

0.45

r/–

4 (20)

158 (28)

    

r/r

2 (10)

24 (4)

    

R/–

6 (30)

111 (21)

    

R/r

1 (5)

74 (13)

    

R/R

1 (5)

24 (4)

    
  1. Significant p-values are italicized
  2. N = number of patients, % = percentage of patients, OR = odds ratio, lower CI = lower confidence interval limit, upper CI = upper confidence interval limit, IQR = inter-quartile range, Spo = sporadic, Fam = familial, Neg = negative, Pos = positive, SSM = superficial spreading melanoma, IS = in situ melanoma, R = MC1R red hair color variant, r = MC1R non-red hair color variant
  3. aOdds that the outcome occurs in the MITF+ group compared to the odds of the outcome occurring in the MITF− group