Kamata Ken, Takenaka Mamoru, Nishida Naoshi, Hara Akane, Otsuka Yasuo, Tanaka Hidekazu, Omoto Shunsuke, Minaga Kosuke, Yamao Kentaro, Chiba Yasutaka, Sakai Kazuko, Nishio Kazuto, Watanabe Tomohiro, Kudo Masatoshi
Department of Gastroenterology and Hepatology, Kindai University Faculty of Medicine, Osaka-Sayama, Japan.
Clinical Research Center, Kindai University Hospital, Osaka-Sayama, Japan.
Int J Clin Oncol. 2023 Nov;28(11):1511-1519. doi: 10.1007/s10147-023-02396-w. Epub 2023 Aug 18.
This prospective cohort study evaluated the feasibility of using endoscopic ultrasound-guided fine-needle biopsy (EUS-FNB) samples for comprehensive mutational analysis of cancer-related genes using microtissues.
Fifty patients with suspected pancreatic cancer presenting consecutively at the Kindai University Hospital between January 2018 and January 2019 were enrolled. Cancerous tissues from EUS-FNB were obtained from each tumor and subjected to histological examination and mutational analysis. The primary endpoint was the collection rate of EUS-FNB specimens suitable for comprehensive cancer panels using deep sequencing. Clinical history and genetic variations between the disease control and progressive disease groups of patients on chemotherapy were evaluated as secondary endpoints.
The collection rate of EUS-FNB specimens suitable for comprehensive cancer panels using deep sequencing was 93.6%. The cancer panel was sequenced for 25 patients with pancreatic cancer treated initially with systemic chemotherapy. Mutation in p53 and Smad4 were positively and negatively associated, respectively, with disease control at the initial evaluation. The median time to progression in 15 patients with p53 and without Smad4 mutations was 182.0 days; whereas, it was 92.5 days in other 10 patients; this difference was significant (p = 0.020).
Tissue samples from EUS-FNB were suitable for mutational analysis. Pancreatic cancers with p53 and without Smad4 mutations responded better to chemotherapy and had a better prognosis than those others.
这项前瞻性队列研究评估了使用内镜超声引导下细针穿刺活检（EUS-FNB）样本进行癌症相关基因微组织综合突变分析的可行性。
纳入2018年1月至2019年1月期间连续在近畿大学医院就诊的50例疑似胰腺癌患者。从每个肿瘤获取EUS-FNB的癌组织，进行组织学检查和突变分析。主要终点是使用深度测序适合综合癌症检测板的EUS-FNB标本采集率。化疗患者疾病对照组和疾病进展组之间的临床病史和基因变异作为次要终点进行评估。
使用深度测序适合综合癌症检测板的EUS-FNB标本采集率为93.6%。对25例最初接受全身化疗的胰腺癌患者进行了癌症检测板测序。p53和Smad4突变分别与初始评估时的疾病控制呈正相关和负相关。15例有p53突变且无Smad4突变患者的中位进展时间为182.0天；而其他10例患者为92.5天；差异有统计学意义（p = 0.020）。
EUS-FNB的组织样本适合进行突变分析。有p53突变且无Smad4突变的胰腺癌对化疗反应更好，预后比其他胰腺癌更好。
