Iwaya Hiromichi, Tanimoto Akihide, Toyodome Koshiro, Kojima Issei, Hinokuchi Makoto, Tanoue Shiroh, Hashimoto Shinichi, Kawahira Machiko, Arima Shiho, Kanmura Shuji, Akahane Toshiaki, Higashi Michiyo, Suzuki Shinsuke, Ueno Shinichi, Ohtsuka Takao, Ido Akio
Digestive and Lifestyle Diseases, Graduate School of Medical and Dental Sciences, Kagoshima University, 8-35-1 Sakuragaoka, Kagoshima 890-8520, Japan.
Iwaya Internal Medicine and Endoscopy Clinic, 1-16-3 Arata, Kagoshima 890-0054, Japan.
Diagnostics (Basel). 2023 Mar 13;13(6):1078. doi: 10.3390/diagnostics13061078.
This study evaluated the feasibility and clinical utility of liquid-based cytology (LBC) specimens via endoscopic ultrasound-guided fine-needle biopsy (EUS-FNB) for next-generation sequencing (NGS) of pancreatic cancer (PC). We prospectively evaluated the performance of DNA extraction and NGS using EUS-FNB samples obtained from PC. Thirty-three consecutive patients with PC who underwent EUS-FNB at our hospital were enrolled. DNA samples were obtained from 96.8% of the patients. When stratified with a variant allele frequency (VAF) > 10% tumor burden, the NGS success rate was 76.7% ( = 23) in formalin-fixed paraffin-embedded (FFPE), 83.3% ( = 25) in LBC, and 76.7% ( = 23) in frozen samples. The overall NGS success rate was 86.7% ( = 26) using FFPE, LBC, or frozen samples. The detection rates for the main mutated genes were as follows: 86.7% for , 73.3% for , 66.7% for , 36.7% for , and 16.7% for . LBC had the highest median value of VAF (23.5%) for and . PC mutation analysis using NGS was successfully performed using LBC compared with FFPE and frozen samples. This approach provides an alternative and affordable source of molecular testing materials.
本研究评估了通过内镜超声引导下细针穿刺活检(EUS-FNB)获取的液基细胞学(LBC)标本用于胰腺癌(PC)下一代测序(NGS)的可行性和临床实用性。我们前瞻性地评估了使用从PC患者获取的EUS-FNB样本进行DNA提取和NGS的性能。连续纳入了33例在我院接受EUS-FNB的PC患者。96.8%的患者获得了DNA样本。当按照变异等位基因频率(VAF)>10%的肿瘤负荷进行分层时,福尔马林固定石蜡包埋(FFPE)样本的NGS成功率为76.7%(n = 23),LBC样本为83.3%(n = 25),冷冻样本为76.7%(n = 23)。使用FFPE、LBC或冷冻样本的总体NGS成功率为86.7%(n = 26)。主要突变基因的检测率如下:KRAS为86.7%,NRAS为73.3%,BRAF为66.7%,PIK3CA为36.7%,PTEN为16.7%。LBC样本中KRAS和NRAS的VAF中位数最高(23.5%)。与FFPE和冷冻样本相比,使用LBC成功进行了PC的NGS突变分析。这种方法提供了一种替代且经济实惠的分子检测材料来源。