Cutaneous head and neck melanoma (HNM) is a separate subgroup of cutaneous melanoma that has a worse prognosis than other primary sites. The aim of this article is to examine the status of somatic mutations (BRAF, NRAS, and KIT) of primary lesion in head and neck regions in our institution experience. Mutational status was correlated to the clinicopathological features and the disease progression. We retrospectively analyzed 76 cases of primary HNM diagnosed from January 2005 to June 2017, from the database of the Melanoma Unit, University of Bologna. The study included 19 cases with molecular assays. BRAF mutations in HNM was positive in five patients (26.3%); NRAS p.Q61L was detected in a NM of the scalp, when the other cases were wild type for the investigated gene mutations. Interestingly, we found that HNM BRAF mutations were the most representative in our cases, although BRAF mutations in the Literature are less frequently found in melanomas occurring at sites of chronic sun damage such as the head and neck. The aim of this study is to stimulate future research.

中文翻译：

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头颈部黑素瘤中体细胞突变的频率：单机构经验。

皮肤的头颈部黑素瘤（HNM）是皮肤黑素瘤的一个独立亚组，其预后比其他主要部位差。本文的目的是检查我们机构经验中头颈部区域原发病变的体细胞突变（BRAF，NRAS和KIT）的状态。突变状态与临床病理特征和疾病进展相关。我们回顾了2005年1月至2017年6月从博洛尼亚大学黑色素瘤部门的数据库中诊断出的76例原发性HNM病例。该研究包括19例分子检测病例。5例患者中HNM的BRAF突变为阳性（26.3％）；当其他病例为研究型基因突变的野生型时，在头皮的NM中检测到NRAS p.Q61L。有趣的是 我们发现，在我们的病例中，HNM BRAF突变是最具代表性的突变，尽管在文献中发现的BRAF突变在诸如头部和颈部等慢性日光照射部位的黑色素瘤中较少见。这项研究的目的是激发未来的研究。