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Prevalence of BRAF, NRAS and c-KIT mutations in Slovenian patients with advanced melanoma

Maja Ebert Moltara
Maja Ebert Moltara
, 
Srdjan Novakovic
Srdjan Novakovic
, 
Marko Boc
Marko Boc
, 
Marina Bucic
Marina Bucic
, 
Martina Rebersek
Martina Rebersek
, 
Vesna Zadnik
Vesna Zadnik
 e 
Janja Ocvirk
Janja Ocvirk
   | 26 apr 2018
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Article Category: Research Article
Pubblicato online: 26 apr 2018
Pagine: 289 - 295
Ricevuto: 25 ott 2017
Accettato: 27 feb 2018
DOI: https://doi.org/10.2478/raon-2018-0017
© 2018 Maja Ebert Moltara, Srdjan Novakovic, Marko Boc, Marina Bucic, Martina Rebersek, Vesna Zadnik, Janja Ocvirk, published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Figure 1

Distributions of BRAF, NRAS and c-KIT mutation according to common histological subtypes in cutaneous melanoma.ALM = acral lentigo maligna; LMM = lentigo maligna melanomas; NOS = not other specified; NM = nodular melanoma; SSM = superficial spreading melanoma
Distributions of BRAF, NRAS and c-KIT mutation according to common histological subtypes in cutaneous melanoma.ALM = acral lentigo maligna; LMM = lentigo maligna melanomas; NOS = not other specified; NM = nodular melanoma; SSM = superficial spreading melanoma

Correlation of BRAF, NRAS, c-KIT mutation and clinico-pathological features of melanoma, all patients (N = 230)

BRAFNRASc-KIT
mutationwild typePmutationwild typePmutationwild typeP
129 (56.1%)101 (43.9%)31 (15.1%)174 (84.9%)3 (1.5%)202 (98.5%)
Age (years; mean)52.359.3< 0.0561.454.7< 0.0563.454.9N.A.
Gendermale82 (63.6%)59 (58.4%)0.4319 (61.3%)113 (64.9%)0.622 (66.7%)130 (64.4%)N.A.
female47 (36.4%)42 (41.6%)12 (38.7%)61 (35.1%)1 (33.3%)72 (35.6%)
Histological subtypes

due to low number of specified groups results should be interpreted carefully

SSM40 (31.0%)21 (20.8%)< 0.05

due to low number of specified groups results should be interpreted carefully

6 (19.3%)46 (26.4%)0.59

due to low number of specified groups results should be interpreted carefully

0 (0.0%)52 (25.7%)N.A.
NM22 (17.1%)23 (22.8%)10 (32.3%)33 (19.0%)2 (66.7%)41 (20.3%)
ALM0 (0.0%)1 (1.0%)0 (0.0%)1 (0.6%)0 (0.0%)1 (0.5%)
LMM1 (0.8%)3 (3.0%)0 (0.0%)3 (1.7%)0 (0.0%)3 (1.5%)
other3 (2.3%)11 (10.9%)2 (6.5%)9 (5.1%)1 (33.3%)10 (5.0%)
NOS63 (48.8%)42 (41.5%)13 (41.9%)82 (47.2%)0 (0.0%)95 (47.0%)
Site of primary
head and neck12 (9.3%)12 (11.9%)0.461 (3.2%)21 (12.1%)0.560 (0.0%)22 (10.9%)N.A.
trunk63 (48.8%)28 (27.8%)10 (32.2%)70 (40.2%)1 (33.3%)79 (39.1%)
extremities25 (19.4%)27 (26.7%)12 (38.8%)33 (19.0%)1 (33.3%)44 (21.7%)
unknown27 (20.9%)18 (17.8%)8 (25.8%)35 (20.1%)0 (0.0%)43 (21.3%)
mucosal0 (0.0%)7 (6.9%)0 (0.0%)7 (4.0%)1 (33.3%)6 (3.0%)
uveal2 (1.6%)9 (8.9%)0 (0.0%)8 (4.6%)0 (0.0%)8 (4.0%)
Initially metastatic disease
Yes36 (27.9%)25 (24.8%)0.5910 (32.2%)47 (27.0%)0.731 (33.3%)56 (27.7%)N.A.
No93 (72.1%)76 (75.2%)21 (67.8%)127 (73.0%)2 (66.7%)146 (72.3%)

Patient demographic and clinical characteristics of primary melanoma

Number of patient (N = 230)% of all patient
Gender
     male14161.3
     female8938.7
Age at the time of diagnosis (years)
     < 507833.9
     50 – 595825.2
     60 – 695523.9
     > 693917.0
Location of primary tumour
    cutaneous
              trunk9139.6
              extremities5222.6
              head and neck2410.4
     uveal114.8
     mucusal73.0
     occult4519.6
Tumour stages at diagnosis
     in situ10.4
     localised6729.1
     regional11650.5
     distant4620.0

Histopathological characteristic of cutaneous melanoma (N = 167)

Number of patient (N = 167)% of all patientMeanRange
Melanoma subtype
       SSM6136.6
       NM4526.9
       ALM10.6
       LMM42.4
       NOS5432.3
       Other21.2
Clark3.8(2.0–5.0)
Breslow4.8(0.2–48.0)
Mitotic index8.4(0.0–60.0)
Ulceration8148.5

Mutation of BRAF, NRAS and c-KIT

Number of wild type (%)Number of mutation (%)Type
BRAF (N = 230)101 (43.9%)129 (56.1%)
114 (49.6%)V600E: Val600Glu (c.1799T>A)
15 (6.5%)V600K: Val600Lys (c.1798_1799GT>AA)
NRAS

in 25 cases NRAS and c-KIT analysis was not completed due to inadequact tissue samples

 (N = 205)		174 (84.9%)31 (15.1%)
10 (4.9%)c.181C>A p.(Gln61Lys)
14 (6.7%)c.182A>G p.(Gln61Arg)
2 (1.0%)c.182A>T p.(Gln61Leu)
1 (0.5%)c.34G>T p.(Gly12Cys)
3 (1.5%)c.37G>C p.(Gly13Arg)
1 (0.5%)c.183A>C p.(Gln61His)
c-KIT

in 25 cases NRAS and c-KIT analysis was not completed due to inadequact tissue samples

 (N = 205)		202 (98.5%)3 (1.5%)
2 (1.0%)c.1676T>C p.(Val559Ala)
1 (0.5%)c.1727T>C p.(Leu576Pro)
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