Diagnosis of pancreatic lesions collected by endoscopic ultrasound-guided fine-needle aspiration using next-generation sequencing.
Diagnosis of pancreatic lesions collected by endoscopic ultrasound-guided fine-needle aspiration using next-generation sequencing.
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DOI：
10.3892/ol.2016.5168
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发表时间：
2016-11
期刊：
影响因子：
2.9
通讯作者：
Maeda S
中科院分区：
文献类型：
--
作者：
Kameta E;Sugimori K;Kaneko T;Ishii T;Miwa H;Sato T;Ishii Y;Sue S;Sasaki T;Yamashita Y;Shibata W;Matsumoto N;Maeda S
超声内镜引导下细针穿刺（EUF-FNA）提高了胰腺病变的诊断。下一代测序（NGS）促进了同时产生数百万个序列。因此，在本研究中，为了提高胰腺病变中致癌突变的可检测性，使用NGS系统诊断EUS-FNA样本。共分析了38例临床诊断为EUS-FNA标本的患者; 27例患者患有胰腺导管腺癌（PDAC），11例患者患有非PDAC病变。分离DNA样品并通过NGS使用Ion Personal Genome Machine系统进行测序。癌症热点小组v2包括50个癌症相关基因和2，790个COSMIC突变。>2%的突变频率被定义为阳性。在27例PDAC抽吸物中的26例（96%）和11例非PDAC病变中的0例（0%）中检测到KRAS突变。G12、G13和Q61 KRAS突变分别在27个PDAC样品中的25个、0个和1个中发现。通过TaqMan®聚合酶链反应分析确认突变。在27例PDAC抽吸物中的12例（44%）中检测到TP 53突变。SMAD 4在3个PDAC病变中观察到，细胞周期蛋白依赖性激酶抑制剂2A在4个PDAC病变中观察到。因此，本研究成功开发了一种对EUS-FNA样本具有高临床灵敏度的NGS检测方法。
Endoscopic ultrasound-guided fine-needle aspiration (EUF-FNA) has improved the diagnosis of pancreatic lesions. Next-generation sequencing (NGS) facilitates the production of millions of sequences concurrently. Therefore, in the current study, to improve the detectability of oncogenic mutations in pancreatic lesions, an NGS system was used to diagnose EUS-FNA samples. A total of 38 patients with clinically diagnosed EUS-FNA specimens were analyzed; 27 patients had pancreatic ductal adenocarcinoma (PDAC) and 11 had non-PDAC lesions. DNA samples were isolated and sequenced by NGS using an Ion Personal Genome Machine system. The Cancer Hotspot Panel v2, which includes 50 cancer-related genes and 2,790 COSMIC mutations, was used. A >2% mutation frequency was defined as positive. KRAS mutations were detected in 26 of 27 PDAC aspirates (96%) and 0 of 11 non-PDAC lesions (0%). The G12, G13, and Q61 KRAS mutations were found in 25, 0, and 1 of the 27 PDAC samples, respectively. Mutations were confirmed by TaqMan® polymerase chain reaction analysis. TP53 mutations were detected in 12 of 27 PDAC aspirates (44%). SMAD4 was observed in 3 PDAC lesions and cyclin-dependent kinase inhibitor 2A in 4 PDAC lesions. Therefore, the current study was successfully able to develop an NGS assay with high clinical sensitivity for EUS-FNA samples.
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