Dermoscopic features of melanomas associated with MC1R variants in Spanish CDKN2A mutation carriers.
BACKGROUND
The presence of at least one MC1R gene variant is associated with a reduction in age at melanoma diagnosis in families with CDKN2A mutations.


OBJECTIVE
To describe dermoscopic features of early melanoma in CDKN2A gene mutation-positive Spanish individuals and to evaluate the possibility of a correlation between particular dermatoscopic pattern and MC1R gene variants.


METHODS
Patients in whom a melanoma was diagnosed during specific follow up of high-risk individuals carrying CDKN2A mutations (with familial or personal history of previous melanoma) were included in this study. The decision to remove such melanomas was taken on the basis of history, clinical and dermoscopic evaluations including total body photography and digital dermoscopy.


RESULTS
Of the nine patients included in this study, three were noncarriers of the red hair MC1R polymorphism, three patients had one red hair MC1R polymorphism and three patients had two red hair MC1R polymorphisms. On dermoscopic analysis of suspect melanocytic lesions we found that the mean +/- SD ABCD total dermoscopy score (TDS) was significantly higher in noncarriers of red hair MC1R polymorphisms than in carriers of two MC1R gene red hair variants (6.8 +/- 0.4 vs. 4.4 +/- 0.9; P = 0.014).


CONCLUSIONS
Early melanomas in patients with two MC1R red hair variants may be difficult to diagnose definitively by dermoscopy because, in our limited experience, they show fewer colours and structures and have a lower TDS. In such melanomas, subtle atypical vessels and other changes detected by digital image follow up may be useful to confirm the diagnosis of melanoma. An integrated approach including clinical history and dermoscopic data (also considering additional information, such as the presence of atypical vessels) should be utilized in evaluating these high-risk patients. Further studies are necessary to confirm our suggestion.
Cuéllar
F
F
Melanoma Unit, Department of Dermatology, IDIBAPS, Hospital Clínic Barcelona, 08036, Barcelona, Spain.
Puig
S
S
Kolm
I
I
Puig-Butille
J
J
Zaballos
P
P
Martí-Laborda
R
R
Badenas
C
C
Malvehy
J
J
D000328:Adult; D000367:Age Factors; D046169:Dermoscopy / Q000379:methods; D005260:Female; D019942:Genes, p16; D014644:Genetic Variation / Q000235:genetics*; D005838:Genotype; D006200:Hair Color / Q000235:genetics*; D006801:Humans; D008297:Male; D008545:Melanoma / Q000208:ethnology / Q000235:genetics / Q000473:pathology; D008875:Middle Aged; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic / Q000235:genetics; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics*; D012878:Skin Neoplasms / Q000208:ethnology / Q000235:genetics / Q000473:pathology*; D013030:Spain / Q000208:ethnology; D055815:Young Adult
D044102:Receptor, Melanocortin, Type 1
Eur J Cancer. 2004 Nov;40(16):2355-66
15519506
Am J Hum Genet. 2001 Oct;69(4):765-73
11500805
Annu Rev Genet. 2003;37:67-90
14616056
Hum Mol Genet. 2000 Oct 12;9(17):2531-7
11030758
Curr Opin Oncol. 1993 Mar;5(2):358-63
8457619
J Invest Dermatol. 2001 Aug;117(2):294-300
11511307
Hum Mol Genet. 2004 Feb 15;13(4):447-61
14709592
J Am Acad Dermatol. 1994 Apr;30(4):551-9
8157780
J Clin Oncol. 2005 May 1;23(13):3043-51
15860862
Kidney Int. 1999 Apr;55(4):1225-33
10200984
Melanoma Res. 2004 Aug;14(4):301-9
15305162
Hum Genet. 1997 Dec;101(3):359-64
9439668
Br J Dermatol. 2000 May;142(5):893-8
10809845
Int J Oncol. 2003 Jun;22(6):1209-15
12738985
Bioessays. 1998 Sep;20(9):712-21
9819560
Arch Dermatol. 2005 Feb;141(2):155-60
15724011
Hum Mutat. 2000;15(1):7-12
10612815
Am J Hum Genet. 2001 Oct;69(4):774-9
11500806
Br J Dermatol. 2004 Jun;150(6):1117-24
15214897
Eur J Dermatol. 1999 Sep;9(6):470-6
10491506
Hum Genet. 2003 Apr;112(4):387-99
12579416
Clin Dermatol. 2002 May-Jun;20(3):297-304
12074871
Pigment Cell Res. 2000 Jun;13(3):135-40
10885670
Arch Dermatol. 2001 Oct;137(10):1343-50
11594860
Cancer Epidemiol Biomarkers Prev. 2005 Sep;14(9):2208-12
16172233
Dermatol Surg. 2007 Oct;33(10):1262-73
17903162
Semin Oncol. 1982 Dec;9(4):442-7
7170630