在黑色素瘤中检测到 KIT 基因外显子 11 中的新型种系错义突变。
Novel somatic Missense Mutations in Exon 11 of the KIT Gene are Detected in Melanoma.
机构信息
Department of Pathophysiology, Krasnoyarsk State Medical University, P. Zeleznyaka str. 1, 660022, Krasnoyarsk, Russian Federation.
Krasnoyarsk Scientific Center of the Siberian Branch the Russian Academy of Sciences, 50, Акаdemgorodok Str., Krasnoyarsk, 660036, Russian Federation.
出版信息
Asian Pac J Cancer Prev. 2023 Sep 1;24(9):3015-3020. doi: 10.31557/APJCP.2023.24.9.3015.
OBJECTIVE
The aim of the present study was to analyze mutations of the mast/stem cell growth factor receptor Kit (KIT) gene in patients with melanoma from Eastern Siberia regions of the Russian Federation.
METHODS
KIT gene mutations in exons 11 and 13 were analyzed by Sanger sequencing in 57 tumor samples obtained from patients with KIT-positive melanomas localized in preferable locations.
RESULT
Mutations were identified in 21% of patients. Among them, multiple mutations were identified in five patients. A total of 18 mutations were observed in the KIT gene, of which three were deletions and fourteen substitution mutations. Age, gender and clinicopathological characteristics of patients with cutaneous KIT-positive melanoma in Eastern Siberia corresponded to the European population. According to computational prediction tools, all mutations were evaluated as potentially harmful.
CONCLUSION
The six novel mutations reported in the present study expand our knowledge on the molecular pathogenesis of melanoma, which can be used to further explore methods to improve disease therapeutic strategies.
目的
本研究旨在分析俄罗斯远东地区黑色素瘤患者mast/stem 细胞生长因子受体 Kit（KIT）基因的突变。
方法
对 57 例 KIT 阳性黑色素瘤患者的肿瘤样本进行了 KIT 基因外显子 11 和 13 的 Sanger 测序分析。
结果
21%的患者中发现了突变。其中，5 例患者存在多种突变。在 KIT 基因中观察到 18 种突变，其中 3 种缺失，14 种取代突变。西伯利亚东部皮肤 KIT 阳性黑色素瘤患者的年龄、性别和临床病理特征与欧洲人群相符。根据计算预测工具，所有突变均被评估为潜在有害。
结论
本研究报道的 6 种新突变扩展了我们对黑色素瘤分子发病机制的认识，可用于进一步探索改善疾病治疗策略的方法。
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