Expert consensus on the molecular diagnosis of early-stage pancreatic cancer (2023 edition)
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摘要: 胰腺癌是一种较为常见的消化系统肿瘤,早期诊断困难,恶性程度极高。以肿瘤生物标志物为核心的分子辅助诊断技术,结合现有临床金标准,对于实现早期精准检测、及时治疗干预及降低病死率具有重要的临床意义。研究证实,微小RNA(miRNA)在胰腺肿瘤不同病理时期出现的种类和表达量变化呈现高度特异性,可用于胰腺肿瘤发生、发展的全程监测。单个miRNA的诊断潜力有限,miRNA组合或可有效提升对早期胰腺癌变的诊断性能。本共识基于近年相关研究进展,填补胰腺癌临床诊疗指南中关于分子诊断技术的空白,并提供专家指导意见。Abstract: Pancreatic cancer is a relatively common tumor of the digestive system, with difficulties in early-stage diagnosis and an extremely high degree of malignancy. Molecular diagnostic technology based on tumor biomarkers, combined with the existing gold standard in clinical practice, is of great clinical significance to achieve early accurate identification, timely treatment and intervention, and reduction in mortality. Previous studies have shown that miRNAs show high specificity in terms of types and expression levels in different pathological stages of pancreatic cancer and can thus be used in monitoring the development and progression of pancreatic cancer. Since a single miRNA has a limited diagnostic potential, the combination of different miRNAs may effectively improve the diagnostic efficiency of early-stage pancreas carcinogenesis. Based on related research advances in recent years, this consensus document aims to fill the gap in molecular diagnostic technology in the guidelines for the clinical diagnosis and treatment of pancreatic cancer and provide expert guidance and recommendations.
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Key words:
- Pancreatic Neoplasms /
- Early Detection of Cancer /
- Biomarkers, Tumor /
- MicroRNAs /
- Expert Consensus
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表 1 GRADE分级系统
Table 1. Grading of recommendations assessment, development and evaluation
类别 分级 定义 证据质量分级 高 非常有把握观察值接近真实值 中 对观察值有中等把握:观察值有可能接近真实值,但也有可能差别很大 低 对观察值的把握有限:观察值可能与真实值有很大差别 极低 对观察值几乎没有把握:观察值与真实值可能有极大差别 推荐强度分级 强 有1项或多项高质量的随机对照研究回答该临床问题 中 针对该问题,有设计良好的临床研究但样本量小于500 弱 专家委员会的报告或观点,以及权威专家的临床经验,提示本领域需进行高质量的临床研究 表 2 胰腺癌高频突变基因
Table 2. High frequency mutant genes of pancreatic cancer
基因 功能 突变频率 KRAS 原癌基因,调控细胞生长分化 >95% TP53 抑癌基因,细胞凋亡及分化 50%~75% CDKN2A/p16INK4 抑癌基因,调节细胞周期 95%~98% DPC4/SMAD4 抑癌基因,参与细胞凋亡 50% BRCA1 抑癌基因,参与双链DNA的断裂修复 15% BRCA2 抑癌基因,参与双链DNA的断裂修复 17% PALB2 抑癌基因,参与双链DNA的断裂修复 5% 注:BRCA,乳腺癌易感基因;PALB2,BRCA2定位协作基因。 表 3 胰腺癌阳性患者4个miRNA联合检测结果
Table 3. Results of combined detection of 4 miRNAs in pancreatic cancer-positive patients
4个miRNA联合检测 病理学诊断 合计(例) 阳性(例) 阴性(例) 阳性(例) 720 26 746 阴性(例) 21 539 560 合计(例) 741 565 1 306 -
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