皮肤黑色素瘤的皮肤镜特征与患者和肿瘤的临床特征以及MC1R基因分型相关。
Dermoscopic features of cutaneous melanoma are associated with clinical characteristics of patients and tumours and with MC1R genotype.
作者信息
Fargnoli M C, Sera F, Suppa M, Piccolo D, Landi M T, Chiarugi A, Pellegrini C, Seidenari S, Peris K
机构信息
Department of Dermatology, University of L'Aquila, L'Aquila, Italy.
出版信息
J Eur Acad Dermatol Venereol. 2014 Dec;28(12):1768-75. doi: 10.1111/jdv.12411. Epub 2014 Mar 4.
BACKGROUND
Several algorithms are available for the dermoscopic diagnosis of pigmented skin lesions. The MC1R gene is a key determinant of pigmentation characteristics that are established host-related melanoma risk factors.
OBJECTIVES
To investigate the association of dermoscopic features of sporadic cutaneous melanomas with clinical characteristics of patients and corresponding tumours and with genetic changes in the MC1R and BRAF genes.
METHODS
A total of 64 dermoscopic images of 62 patients were scored by ABCD rule and modified pattern analysis. Detailed patients' and melanomas' characteristics were collected. Patients were screened for germline MC1R variants and related melanomas for somatic V600 BRAF mutations.
RESULTS
A lower total dermoscopic score (TDS) was observed in melanomas of patients with red hair (P = 0.019), due to reduced dermoscopic structures (P < 0.0001). Thicker melanomas showed higher TDS values (P = 0.021) due to sharper borders (P < 0.0001) and higher number of colors (P = 0.004). An atypical pigment network was prevalent in superficial spreading melanomas (P = 0.010), in individuals with dark skin (P = 0.043) and hair color (P = 0.001). An atypical vascular pattern was more frequent in nodular (P < 0.0001) and thick (P < 0.0001) melanomas, in individuals with skin type I-II (P = 0.037), blond or red hair color (P = 0.032) and blue or green eyes (P = 0.014). Melanomas of MC1R R carriers showed lower TDS value (P = 0.037), reduced dermoscopic structures (P = 0.001) and lower prevalence of atypical pigment network (P = 0.001). No differences were identified between BRAF-mutated or wild-type melanomas.
CONCLUSIONS
We suggest a phenotypic/MC1R profile for melanoma patients and their tumours. Melanomas of MC1R R carriers show a significant lower TDS value, with reduced dermoscopic structures, and a lower prevalence of an atypical pigment network. Non-carriers of MC1R R variants develop melanomas dermoscopically characterized by an atypical pigment network which is prevalent in superficial spreading melanomas, in patients with dark complexion and less frequent in red-haired individuals.
背景
有几种算法可用于色素性皮肤病变的皮肤镜诊断。MC1R基因是色素沉着特征的关键决定因素，而色素沉着特征是已确定的与宿主相关的黑色素瘤风险因素。
目的
研究散发性皮肤黑色素瘤的皮肤镜特征与患者及相应肿瘤的临床特征以及MC1R和BRAF基因的遗传变化之间的关联。
方法
采用ABCD规则和改良模式分析法对62例患者的64张皮肤镜图像进行评分。收集患者和黑色素瘤的详细特征。对患者进行种系MC1R变异筛查，对相关黑色素瘤进行体细胞V600 BRAF突变检测。
结果
红发患者的黑色素瘤皮肤镜总评分（TDS）较低（P = 0.019），这是由于皮肤镜结构减少所致（P < 0.0001）。较厚的黑色素瘤TDS值较高（P = 0.021），这是因为边界更清晰（P < 0.0001）且颜色数量更多（P = 0.004）。非典型色素网在浅表扩散型黑色素瘤（P = 0.010）、肤色较深的个体（P = 0.043）和发色较深的个体（P = 0.001）中更为普遍。非典型血管模式在结节型（P < 0.0001）和厚型（P < 0.0001）黑色素瘤、皮肤类型为I-II型的个体（P = 0.037）、金发或红发个体（P = 0.032）以及蓝眼或绿眼个体（P = 0.014）中更为常见。携带MC1R R的黑色素瘤患者的TDS值较低（P = 0.037），皮肤镜结构减少（P = 0.001），非典型色素网的患病率较低（P = 0.001）。BRAF突变型或野生型黑色素瘤之间未发现差异。
结论
我们提出了黑色素瘤患者及其肿瘤的表型/MC1R特征。携带MC1R R的黑色素瘤患者的TDS值显著较低，皮肤镜结构减少，非典型色素网的患病率较低。MC1R R变异的非携带者发生的黑色素瘤在皮肤镜下的特征为非典型色素网，这在浅表扩散型黑色素瘤、肤色较深的患者中更为普遍，而在红发个体中较少见。
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