结膜黑色素瘤中的循环肿瘤 DNA:前景和监测价值。

IF 4.1 1区 医学 Q1 OPHTHALMOLOGY
Hao Tian , Hanhan Shi , Jie Chen , Tianyu Zhu , Ziyue Huang , Chunyan Zong , Shichong Jia , Jing Ruan , Shengfang Ge , Haihua Yuan , Yanjie Zhang , Bin Jiang , Rong Liu , Renbing Jia , Xianqun Fan , Shiqiong Xu
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引用次数: 0

摘要

目的评估循环肿瘤 DNA(ctDNA)在检测结膜黑色素瘤(CoM)远处转移和显示全身疗效方面的监测价值。方法从 2021 年 7 月到 2023 年 6 月,我们中心对 30 例 CoM 患者进行了血浆 ctDNA 评估,其中 12 例出现远处转移。我们利用新一代测序(NGS)技术,采用包含CoM常见突变和常见药物敏感突变的437个基因面板来分析血浆中的ctDNA突变。临床和放射记录用于评估肿瘤状态。结果 在11例远处转移患者的ctDNA中检测到了与CoM相关的驱动基因突变。ctDNA与组织测序结果高度一致,相互驱动基因突变包括BRAF、NRAS、KRAS、NF1、CTNNB1和TP53突变。ctDNA变异等位基因比例(VAF)与远处转移患者的最长直径之和(SLD,P=0.8192)不相关。ctDNA可作为组织测序的补充或替代物。高VAF ctDNA可能预示着远处转移患者的疾病进展迅速。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Circulating Tumor DNA in Conjunctival Melanoma: Landscape and Surveillance Value

Purpose

To evaluate the surveillance value of circulating tumor DNA (ctDNA) for detecting distant metastasis and indicating systemic therapeutic efficacy in conjunctival melanoma (CoM).

Design

Retrospective, observational case series.

Methods

From July 2021 to June 2023, 30 CoM patients in our center underwent plasma ctDNA assessment, out of which 12 individuals presented with distant metastases. We employed a 437-gene panel containing common mutations in CoM and common drug-sensitive mutations using next-generation sequencing (NGS) technology to analyze ctDNA mutations in plasma. Clinical and radiological records were used to assess tumor status. The relationship between ctDNA characteristics, tissue gene mutations, and clinical manifestations were explored.

Results

CoM-related driver mutations were detected in ctDNA of 11 patients with distant metastasis. The ctDNA were highly consistent with tissue sequencing, mutual driver mutation including BRAF, NRAS, KRAS, NF1, CTNNB1, and TP53 mutation. those with a higher VAF had shorter progression-free survival (PFS, p = .0475) and overall survival (OS, p = .0043). The ctDNA variant allele fraction (VAF) was not correlated with the sum of the longest diameters (SLD, p = .8192) in distant metastasis patients.

Conclusions

Positive plasma ctDNA reflected the presence of metastases. The ctDNA could be used as a complement or alternative to tissue sequencing. High VAF ctDNA might indicate rapid disease progression in distant metastasis patients.
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来源期刊
CiteScore
9.20
自引率
7.10%
发文量
406
审稿时长
36 days
期刊介绍: The American Journal of Ophthalmology is a peer-reviewed, scientific publication that welcomes the submission of original, previously unpublished manuscripts directed to ophthalmologists and visual science specialists describing clinical investigations, clinical observations, and clinically relevant laboratory investigations. Published monthly since 1884, the full text of the American Journal of Ophthalmology and supplementary material are also presented online at www.AJO.com and on ScienceDirect. The American Journal of Ophthalmology publishes Full-Length Articles, Perspectives, Editorials, Correspondences, Books Reports and Announcements. Brief Reports and Case Reports are no longer published. We recommend submitting Brief Reports and Case Reports to our companion publication, the American Journal of Ophthalmology Case Reports. Manuscripts are accepted with the understanding that they have not been and will not be published elsewhere substantially in any format, and that there are no ethical problems with the content or data collection. Authors may be requested to produce the data upon which the manuscript is based and to answer expeditiously any questions about the manuscript or its authors.
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