Genetic Alterations in Primary Acral Melanoma and Acral Melanocytic Nevus in Korea: Common Mutated Genes Show Distinct Cytomorphological Features
Genetic Alterations in Primary Acral Melanoma and Acral Melanocytic Nevus in Korea: Common Mutated Genes Show Distinct Cytomorphological Features
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DOI：
10.1016/j.jid.2017.11.017
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发表时间：
2018-04-01
影响因子：
6.5
通讯作者：
Yun, Sook Jung
中科院分区：
文献类型：
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作者：
Moon, Ki Rang;Choi, Yoo Duk;Yun, Sook Jung
发生在手掌、脚底和指甲上的肢端黑色素瘤是亚洲人最常见的皮肤黑色素瘤亚型。肢端黑色素瘤和肢端黑色素细胞痣的遗传改变尚不清楚。我们对 85 名韩国肢端黑素细胞肿瘤患者进行了下一代测序，并评估了遗传信息与临床病理特征之间的相关性。在 64 例肢端黑色素瘤患者中，大多数病变处于 T2 期或更高阶段，足跟是黑色素瘤最常见的解剖部位（n = 34 [53.1%]）。五个最常见的突变是 BRAF (22 [34.4%])、NRAS (14, [21.9%])、NF1 (11, [17.2%])、GNAQ (12, [17.2%]) 和 KIT (7, [10.9%])。在21个肢端黑素细胞痣中，这5种基因突变也很常见。在 75% 的肢端黑色素瘤和 47.6% 的肢端黑色素细胞痣中也经常检测到拷贝数变异，并且在这两种病变中扩增比缺失更常见。 BRAF 突变与圆形上皮样细胞相关，NRAS 和 NF1 突变与奇异细胞相关。 NF1 和 GNAQ 突变显示肢端黑色素瘤中细长的梭形细胞具有突出的树突。 KIT 突变在无黑色素肢端黑色素瘤中很常见。这项研究表明，常见的突变基因与肢端黑素细胞病变的独特细胞形态学特征相关。
Acral melanoma occurring on the palms, soles, and nails is the most common subtype of cutaneous melanoma in Asians. Genetic alterations in acral melanoma and acral melanocytic nevus are not well known. We performed next-generation sequencing and evaluated the correlations between genetic information and the clinicopathologic characteristics from 85 Korean patients with acral melanocytic neoplasms. Of the 64 patients with acral melanoma, most had lesions at the T2 stage or higher, and the heel was the most common anatomical site of melanoma (n = 34 [53.1%]). The five most common mutations were BRAF (22 [34.4%]), NRAS (14, [21.9%]), NF1 (11, [17.2%]), GNAQ (12, [17.2%]), and KIT (7, [10.9%]). In the 21 acral melanocytic nevi, those five gene mutations were also common. Copy number variations were also frequently detected in 75% of acral melanomas and 47.6% of acral melanocytic nevi, and amplification was more common than deletion in both lesions. BRAF mutation was associated with round epithelioid cells and NRAS and NF1 mutations with bizarre cells. NF1 and GNAQ mutations showed elongated and spindle cells with prominent dendrites in acral melanomas. KIT mutations were common in amelanotic acral melanoma. This study suggests that common mutated genes are associated with distinct cytomorphological features in acral melanocytic lesions.