与参考数据库相比,退伍军人黑色素瘤的综合基因组图谱。

Daniel Mettman, Margaryta Stoieva, Maryam Abdo
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引用次数: 0

摘要

背景:退伍军人代表了一个独特的患者群体,他们的各种暴露可能使他们易患癌症。与这些暴露相关的突变特征在其他肿瘤类型中也有描述。方法:本回顾性研究分析了美国退伍军人事务部医疗中心35例转移性黑色素瘤退伍军人的全面基因组分析报告。基因组研究结果与来自《癌症体细胞突变目录》和《癌症基因组图谱》的结果进行了比较。结果:在这些退伍军人中发现的黑色素瘤显示CDKN2A/B变异的频率明显更高;ROS1、GRIN2A、KDR、KMT2C (MLL3)、KMT2D (MLL2)、LRP1B、PTPRT、PTCH1、FAT4和PREX2的变异频率显著降低;肿瘤突变负荷超过10个突变/兆基的频率明显更高。结论:来自退伍军人黑色素瘤的基因组结果与来自参考数据库的普通人群黑色素瘤的基因组结果存在统计学上的显著差异,这表明有必要进行更多的研究来证实这些差异,并阐明其病因、预后和治疗相关性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Comprehensive Genomic Profiles of Melanoma in Veterans Compared to Reference Databases.

Background: Veterans represent a unique patient population with various exposures that may predispose them to cancer. Mutational signatures associated with these exposures are described in other tumor types.

Methods: This retrospective review analyzes the comprehensive genomic profiling reports of 35 veterans with metastatic melanoma at a large US Department of Veterans Affairs medical center. The genomic findings were compared with those from the Catalogue of Somatic Mutations in Cancer and The Cancer Genome Atlas.

Results: The melanomas found in these veterans showed a significantly higher frequency of variants in CDKN2A/B; a significantly lower frequency of variants in ROS1, GRIN2A, KDR, KMT2C (MLL3), KMT2D (MLL2), LRP1B, PTPRT, PTCH1, FAT4, and PREX2; and a significantly higher frequency of tumor mutational burdens exceeding 10 mutations/megabase.

Conclusions: The presence of statistically significant differences between the genomic findings from the veterans' melanomas and those of general population melanomas from reference databases suggests that additional research is warranted to corroborate these differences and clarify their etiologic, prognostic, and therapeutic relevance.

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