Shan Yangyang, Teng Ying, Guan Chengqi, Mao Zhenbiao, Lu Cuihua, Ding Weifeng, Zhang Jianfeng
Department of Gastroenterology, Affiliated Hospital of Nantong University, Nantong, Jiangsu, 226001, PR China.
Department of General Practice, Affiliated Hospital 2 of Nantong University, Nantong, Jiangsu, 226006, PR China.
Heliyon. 2024 Jul 3;10(13):e34028. doi: 10.1016/j.heliyon.2024.e34028. eCollection 2024 Jul 15.
The purpose of this study was to assess the influence and the clinical effectiveness of the short stature homeobox 2 (SHOX2) and ras association domain family 1A (RASSF1A) genes by tissue sampling through ultrasound endoscopy-guided fine-needle aspiration (EUS-FNA) as auxiliary diagnostic tools for pancreatic cancer (PC). Methylation markers were detected in 96 patients using real-time fluorescence quantitative PCR (qPCR), and the performance of this diagnostic assay was compared with CA19-9, CEA, and puncture fluid-based exfoliative cytology using receiver operating characteristic curve (ROC) analysis. The PC group exhibited higher methylation rates for SHOX2, RASSF1A, and the combined assay of both genes compared to the control group (95.7 % vs. 54.0 %, 78.3 % vs. 36.0 %, and 73.9 % vs. 16.0 %, P < 0.05). The areas under the ROC curve (AUC) for CA19-9, CEA, liquid-based exfoliative cytology, SHOX2, RASSF1A, the combination of SHOX2 and RASSF1A, the combination assay with CEA, CA19-9, and liquid-based exfoliative cytology were 0.827, 0.692, 0.767, 0.770, 0.732, 0.870, 0.870, 0.933, and 0.900, respectively. Therefore, the methylation assay based on the combined SHOX2 and RASSF1A genes in EUS-FNA puncture fluid is more effective than using a single gene, liquid-based exfoliative cytology, or intravenous tumor markers for diagnosing PC. Combining the conventional marker CA19-9 enhances the diagnostic value, making it a promising approach to complement histology and cytology.
本研究的目的是通过超声内镜引导下细针穿刺活检（EUS-FNA）组织采样，评估矮小同源盒2（SHOX2）基因和RAS关联结构域家族1A（RASSF1A）基因作为胰腺癌（PC）辅助诊断工具的影响及临床有效性。采用实时荧光定量PCR（qPCR）检测96例患者的甲基化标志物，并使用受试者工作特征曲线（ROC）分析，将该诊断检测方法与CA19-9、癌胚抗原（CEA）以及基于穿刺液的脱落细胞学检查的性能进行比较。与对照组相比，PC组中SHOX2、RASSF1A以及这两个基因联合检测的甲基化率更高（分别为95.7% 对54.0%、78.3% 对36.0%、73.9% 对16.0%，P < 0.05）。CA19-9、CEA、液基脱落细胞学检查、SHOX2、RASSF1A、SHOX2与RASSF1A联合检测、CEA、CA19-9与液基脱落细胞学检查联合检测的ROC曲线下面积（AUC）分别为0.827、0.692、0.767、0.770、0.732、0.870、0.870、0.933和0.900。因此，基于EUS-FNA穿刺液中SHOX2和RASSF1A基因联合检测的甲基化检测方法在诊断PC方面比使用单个基因、液基脱落细胞学检查或静脉肿瘤标志物更有效。联合传统标志物CA19-9可提高诊断价值，使其成为补充组织学和细胞学检查的一种有前景的方法。
