| 皮肤黑色素瘤基因突变类型及基因拷贝数变异分析 |
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| 引用本文： | 张强,杜俊炜,杨文鹏,江仁兵.皮肤黑色素瘤基因突变类型及基因拷贝数变异分析[J].中国肿瘤临床,2022,49(17):874-879. |
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| 作者姓名： | 张强 杜俊炜 杨文鹏 江仁兵 |
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| 作者单位： | 新疆医科大学附属肿瘤医院骨与软组织肿瘤及黑色素瘤科（乌鲁木齐市830011） |
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| 摘 要： | 目的 对比肢端黑色素瘤（acral melanoma, AM）与非肢端黑色素瘤（non-acral melanoma, NAM）的基因突变类型及基因拷贝数变异（copy number variation, CNV）的差异，讨论并分析其基因突变类型及拷贝数变异的意义。 方法 收集2018年1月至2021年1月新疆医科大学附属肿瘤医院收治的73例皮肤黑色素瘤患者的资料，所有患者均采用二代测序技术对46个癌症相关基因进行了全面的基因组检测。根据解剖部位分为肢端组（AMs）和非肢端组（NAMs），比较并讨论两组患者的临床病理特征、基因突变类型及CNV的差异。 结果 两组患者在性别、年龄、肿瘤厚度、溃疡、淋巴结状态和分期等方面无显著性差异（P>0.05）。73例患者最常见的基因突变类型为BRAF突变（20.5%）、KRAS/NRAS突变（17.8%）、KIT突变（13.7%）。与AMs相比，NAMs的BRAF突变频率呈显著性差异（P<0.05）。年龄≤65岁的患者BRAF突变率与年龄>65岁的患者相比呈显著性差异（P<0.05）。此外，无溃疡的黑色素瘤比有溃疡的黑色素瘤更易出现BRAF突变（P<0.05）。两组患者中KRAS/NRAS和KIT突变率无显著性差异（P>0.05）。影响细胞周期畸变基因（CDK4/6、CCND1/2、CDKN2A）、受体酪氨酸激酶基因（EGFR、MET、ERBB2、ERBB3、PDGFRA）及抗细胞凋亡基因（BIRC2/3/5）的CNV在AMs和NAMs之间呈显著性差异（P=0.019、0.002、0.027）。 结论 通过对AMs和NAMs基因突变类型及CNV的分析，能为深入了解皮肤恶性黑色素瘤致癌模式和临床病理特征提供帮助。
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| 关 键 词： | 黑色素瘤 基因突变 二代测序 基因拷贝数变异 |
| 收稿时间： | 2022-02-15 |
Analysis of gene mutation types and copy number variations of cutaneous melanoma |
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| Affiliation: | Department of Bone and Soft Tissue Tumor and Melanoma, Affiliated Tumor Hospital of Xinjiang Medical University , Urumqi 830011, China |
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| Abstract: | Objective To discuss and analyze the significance of gene mutation types and gene copy number variations (CNV) by comparing their differences between acral melanoma (AM) and non-acral melanoma (NAM). Methods This study included the data of 73 patients with cutaneous melanoma admitted to Affiliated Tumor Hospital of Xinjiang Medical University from January 2018 to January 2021. All patients underwent comprehensive genomic testing of 46 cancer-related genes using next-generation sequencing (NGS) technology. They were assigned into AM and NAM groups (AMs and NAMs) according to different tumor sites, and the clinicopathological characteristics, gene mutation types, and gene CNV between the two groups were compared. Results There was no significant difference in gender, age, tumor thickness, ulcer, lymph node status, and tumor stage between the two groups (P>0.05). The most common mutation types in 73 patients were BRAF (20.5%), KRAS/NRAS (17.8%), and KIT mutations (13.7%). There was a significant difference in the frequency of BRAF mutations in NAMs compared with AMs (P<0.05). There was a significant difference in the BRAF mutation rate between patients≤65 years and patients>65 years (P<0.05). In addition, melanomas without ulcers were more likely to have BRAF mutations than melanomas with ulcers (P<0.05). There was no significant difference in KRAS/NRAS and KIT mutation rates between the two groups (P>0.05). The CNV of cell cycle aberration (CDK4/6, CCND1/2, CDKN2A), receptor tyrosine kinase (EGFR, MET, ERBB2, ERBB3, PDGFRA), and anti-apoptosis genes (BIRC2/3/5) were significantly different between AMs and NAMs (P = 0.019, 0.002, 0.027). Conclusions The analysis of AM and NAM gene mutation types and CNV provides a better understanding of the carcinogenic patterns and clinicopathological characteristics of cutaneous malignant melanoma. |
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