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老年和成人恶性黑色素瘤患者的体基因变异概况
Busra Ekinci1, Ibrahim Halil Erdogdu1, Seda Orenay-Boyacioglu2
1School of Medicine, Department of Medical Pathology, Aydin Adnan Menderes University, Aydin, Türkiye.
Frontiers in oncology
|October 27, 2025
概括
这项研究比较了老年和成人恶性黑色素瘤 (MM) 患者的基因变异. 研究结果揭示了不同的体质变异概况,这对于制定针对MM的老年人制定有针对性的医疗保健政策至关重要.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 老年病的医生 老年病的医生
背景情况:
- 皮肤癌,特别是恶性黑色素瘤 (MM),不成比例地影响老年人群.
- 了解老年人MM的遗传情景对于推进个性化医学和医疗保健策略至关重要.
- 身体基因变异在MM的发病和进展中发挥着关键作用.
研究的目的:
- 在老年 (≥65岁) 和成人 (<65岁) 患者队列中调查和比较恶性黑色素瘤 (MM) 的体变异概况.
- 为了确定两个年龄组之间的共同和独特的基因变异,以告知临床实践和医疗保健政策.
- 评估小组测试在老年人MM特征的临床效用.
主要方法:
- 对103名在2019年至2023年期间被诊断为MM的成年MM患者的回顾性分析.
- 患者被分为老年 (≥65) 和成人 (<65) 两类.
- 使用探针捕获方法进行针对性下一代测序 (NGS) 面板测试,用于分析体质变异.
主要成果:
- 该研究包括103名患者,其中55名在老年组,48名在成人组.
- 在老年MM患者中,最常见的致病变体是BRAF V600E (14.55%) 和V600K (7.27%),其次是NRAS和NF1 (分别9.09%).
- 在成年MM患者中,BRAF V600E (39.58%) 和V600K (8.33%) 是最常见的,其次是NRAS (14.58%) 和NF1 (8.33%).
结论:
- 老年MM患者体变异的分布对医疗保健政策制定具有重要意义.
- 这些发现代表了土耳其MM患者体质变异的首次报告数据.
- 在MM中描述特定年龄的遗传特征可以导致更有效的诊断和治疗策略.
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