评估循环肿瘤DNA（ctDNA）对检测结膜黑色素瘤（CoM）远处转移和指示全身治疗效果的监测价值。回顾性、观察性病例系列。2021年7月至2023年6月，我中心30名CoM患者接受了血浆ctDNA检测评估，其中 12 人出现远处转移。我们采用包含 CoM 常见突变和常见药物敏感突变的 437 基因组，使用下一代测序 (NGS) 技术来分析血浆中的 ctDNA 突变。使用临床和放射学记录来评估肿瘤状态。探讨ctDNA特征、组织基因突变与临床表现之间的关系。11例远处转移患者的ctDNA中检测到CoM相关驱动突变。 ctDNA与组织测序高度一致，相互驱动突变包括BRAF、NRAS、KRAS、NF1、CTNNB1和TP53突变。 VAF 较高的患者无进展生存期（PFS，p=0.0475）和总生存期（OS，p=0.0043）较短。远处转移患者的ctDNA变异等位基因分数（VAF）与最长直径总和（SLD，p=0.8192）不相关。血浆ctDNA阳性反映了转移的存在。 ctDNA 可用作组织测序的补充或替代。高 VAF ctDNA 可能表明远处转移患者的疾病进展迅速。版权所有 © 2024。由 Elsevier Inc. 出版。

To evaluate the surveillance value of circulating tumor DNA (ctDNA) for detecting distant metastasis and indicating systemic therapeutic efficacy in conjunctival melanoma (CoM).Retrospective, observational case series.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.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=0.0475) and overall survival (OS, p=0.0043). The ctDNA variant allele fraction (VAF) was not correlated with the sum of the longest diameters (SLD, p=0.8192) in distant metastasis patients.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.Copyright © 2024. Published by Elsevier Inc.