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Table 1 Clinical characteristics of the metastatic melanoma patients

From: Quality assessment of a clinical next-generation sequencing melanoma panel within the Italian Melanoma Intergroup (IMI)

Sample ID

Sex

I

LN MTS cell tumor content (%)

Melanoma site

Primary tumor syze

Regional lymph node status

B

M

U

P

BRAF Exon 15 mutation by SS

BRAF Exon 15 mutation by additional method

NRAS Exon 2–3 mutations by SS

#1

M

G

~ 70

left lower leg

pT3b

pN3

3.55

9

Y

n.a.

WT

PNAClampâ„¢ BRAF Mutation Detection Kit: WT

NM_002524: c.182A > G p.Gln61Arg

#2

F

G

> 90

left upper leg

pT4b

pN3

5.53

11

Y

Y

NM_004333: c.1799 T > A p.Val600Glu

PNAClampâ„¢ BRAF Mutation Detection Kit: Mutated

n.d.

#3

M

G

> 80

right lower leg

n.a

pN3

2.92

3

n.a

N

NM_004333:

c.1799 T > A p.Val600Glu

PNAClampâ„¢ BRAF Mutation Detection Kit: Mutated

n.d.

#4

F

G

80–85

right arm

pT4a

pN3

12.5

14

Y

Y

WT

PNAClampâ„¢ BRAF Mutation Detection Kit: WT

NM_002524: c.181C > A p.Gln61Lys

#5

F

G

~ 80

left upper leg

pT3a

pN3

3.5

5–9

N

Y

NM_004333: c.1799_1800delTGinsAC p.Val600Asp

PNAClampâ„¢ BRAF Mutation Detection Kit: Mutated

WT

#6

M

S

~ 80

upper back

pT3a

pN2b

2.75

4

N

N

NM_004333: c.1799 T > A p.Val600Glu

Therascreenâ„¢ BRAF Pyro Kit: Mutated

WT

#7

M

S

> 80

left upper leg

pT3b

pN3b

3.53

5

Y

Y

NM_004333: c.1798_1799delGTinsAA p.Val600Lys

Therascreenâ„¢ BRAF Pyro Kit: Mutated

WT

#8

F

S

~ 80

left forearm

pT3a

pN2b

2.26

3

N

N

NM_004333: c.1799 T > A p.Val600Glu

Therascreenâ„¢ BRAF Pyro Kit: Mutated

WT

#9

M

S

> 80

right lower leg

pT4b

pN3b

7.45

8

Y

N

WT

Therascreenâ„¢ BRAF Pyro Kit: WT

WT

#10

F

S

~ 90

left foot

pT3b

pN2b

2.15

2

Y

Y

NM_004333: c.1790 T > G p.Leu597Arg

Therascreenâ„¢ BRAF Pyro Kit: Not Detected

WT

#11

M

S

~ 80

upper back

pT3a

pN2b

2.84

2

N

N

NM_004333: c.1799 T > A p.Val600Glu

Therascreenâ„¢ BRAF Pyro Kit: Mutated

WT

  1. Abbreviations: M Male; F female; I institute; G: IRCCS Ospedale Policlinico San Martino, Genoa; S: Unit of Cancer Genetics at the National Research Council/CNR, Sassari; LN MTS lymph node metastases; B Breslow; M mitosis/mm2; U ulceration; P pigmentation; SS sanger sequencing; Y yes; N no; n.a. not available, n.d. not done, WT wild type