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循环瘤DNA分析揭示了复发性胃或食道结节癌症的基因组演变

Ryohei Kawabata ¹, Hiroyuki Takeda ², Atsushi Ishiguro ³

¹Department of Surgery, Sakai City Medical Center, Sakai, Japan.
²Department of Clinical Oncology, St. Marianna University School of Medicine, 2-16-1, Sugao, Miyamae-ku, Kawasaki, Kanagawa, 216-8511, Japan.
³Department of Medical Oncology, Teine Keijinkai Hospital, Sapporo, Japan.
⁴Department of Medical Oncology, Kurashiki Central Hospital, Kurashiki, Japan.
⁵Department of Gastroenterological Surgery, Yokohama Municipal Citizen's Hospital, Yokohama, Japan.
⁶Department of Medical Oncology, Yamagata Prefectural Shinjo Hospital, Shinjo, Japan.
⁷Department of Surgery, Kure Medical Center and Chugoku Cancer Center, Kure, Japan.
⁸Department of Gastroenterological Surgery, Higashiosaka City Medical Center, Higashiosaka, Japan.
⁹Department of Medical Oncology, Osaki Citizen Hospital, Osaka, Japan.
¹⁰Department of Surgery, Osaka Rosai Hospital, Osaka, Japan.
¹¹Department of Gastroenterology, Hyogo Cancer Center, Hyogo, Japan.
¹²Department of Surgery, Yamagata Prefectural Central Hospital, Yamagata, Japan.
¹³Department of Medical Oncology, Ishikawa Prefectural Central Hospital, Kanazawa, Japan.
¹⁴Department of Gastroenterological Surgery, Niigata Cancer Center Hospital, Niigata, Japan.
¹⁵Department of Oncological Medicine, Kochi Health Sciences Center, Kochi, Japan.
¹⁶Cancer Center, Gifu University Hospital, Gifu, Japan.
¹⁷Aizawa Comprehensive Cancer Center, Aizawa Hospital, Honjo, Japan.
¹⁸Medical Education and Humanities, St. Marianna University School of Medicine, Kawasaki, Japan.
¹⁹Department of Clinical Oncology, St. Marianna University School of Medicine, 2-16-1, Sugao, Miyamae-ku, Kawasaki, Kanagawa, 216-8511, Japan. y.suna0825@gmail.com.

⁰Department of Surgery, Sakai City Medical Center, Sakai, Japan.

Molecular Diagnosis & Therapy +

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2025年九月1日

在PubMed上查看摘要

概括

液体活检检测到反复复发的胃癌中的可操作的基因组变化, 这支持使用循环瘤DNA指导晚期疾病的治疗决策.

科学领域

癌症学
基因组学
分子诊断

背景情况

由于治疗选择有限,复发的胃和食道结癌存在重大挑战.
档案瘤组织可能不准确地代表复发性疾病的分子格局.

研究的目的

评估循环瘤DNA (ctDNA) 分析在复发性胃癌中识别可操作的基因组变异的有效性.
将ctDNA发现与原始瘤档案中的基因组资料进行比较.

主要方法

一项前性观察性研究,涉及50名胃或胃食道结腺癌的患者.
用于复发时进行ctDNA分析的Guardant360试验,并与初级瘤的综合基因组分析进行比较.
主要终点:可操作的基因组变化的检测率 (OncoKB水平≥3).

主要成果

在78%的患者中检测到ctDNA,在36%的患者中发现可操作的基因组变化.
主要变化包括PIK3CA突变 (18%),ARID1A突变 (10%) 和ERBB2放大 (6%).
观察到显著的基因组进化,66. 7% 的配对样本显示出可操作的基因组变化,包括专门在ctDNA中发现的新发现.

结论

ctDNA分析成功捕捉了复发性胃癌的基因组演变,确定了临床相关的变化.
这些发现支持将液体活检纳入临床实践,以指导复发性疾病的治疗策略.

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