白种人原发性甲下黑色素瘤的突变谱
Mutation profile of primary subungual melanomas in Caucasians.
作者信息
Borkowska Aneta, Szumera-Ciećkiewicz Anna, Spałek Mateusz, Teterycz Paweł, Czarnecka Anna, Kowalik Artur, Rutkowski Piotr
机构信息
Department of Soft Tissue/Bone Sarcoma and Melanoma, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland.
Department of Pathology and Laboratory Medicine, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland.
出版信息
Oncotarget. 2020 Jun 23;11(25):2404-2413. doi: 10.18632/oncotarget.27642.
BACKGROUND
Specific genomic profile of cutaneous melanomas is related to UVR exposure, which exerts biological and therapeutic impact. Subungual melanoma (SUM) is an exceedingly rare disease; therefore, it is not well characterized. SUM pathogenesis is not related to UVR induced DNA damage and expected to differ from other melanoma subtypes. Our study aimed to define the mutation profile of SUM in Caucasians.
MATERIALS AND METHODS
Next-generation sequencing-based genomic analysis was used to identify frequently mutated loci in 50 cancer-related genes in 31 SUM primary tumors.
RESULTS
The most abundant mutations in SUM were found in - in 13% of cases and - also in 13%, while - only in 3% of cases.
CONCLUSIONS
Our findings confirmed a high frequency of and mutations in SUM, as well as a low incidence of mutations. We reported novel , , , , and mutations in SUM. Our findings provide new insights into the molecular pathogenesis of SUM.
背景
皮肤黑色素瘤的特定基因组特征与紫外线辐射暴露有关，紫外线辐射会产生生物学和治疗学影响。甲下黑色素瘤（SUM）是一种极其罕见的疾病；因此，其特征尚未明确。SUM的发病机制与紫外线诱导的DNA损伤无关，预计与其他黑色素瘤亚型不同。我们的研究旨在确定白种人中SUM的突变谱。
材料与方法
基于下一代测序的基因组分析用于识别31例SUM原发性肿瘤中50个癌症相关基因的常见突变位点。
结果
SUM中最常见的突变发生在——13%的病例中，以及——也在13%的病例中，而——仅在3%的病例中。
结论
我们的研究结果证实了SUM中 和 突变的高频率，以及 突变的低发生率。我们报告了SUM中 、 、 、 和 的新突变。我们的研究结果为SUM的分子发病机制提供了新的见解。
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