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Citation:

早期胰腺癌分子诊断专家共识(2023年版)

DOI: 10.12449/JCH240306
基金项目: 

国家自然科学基金 (81770846)

国家自然科学基金 (81642006)

Hirshberg胰腺癌研究基金 (AH201901083)

康德生物癌症研究基金 (KD2021030001)

利益冲突声明:本文不存在任何利益冲突。

Expert consensus on the molecular diagnosis of early-stage pancreatic cancer (2023 edition)

Research funding: 

Natural National Science Foundation of China (81770846);

Natural National Science Foundation of China (81642006);

U.S. Hirshberg Foundation for Pancreatic Cancer Research (AH201901083);

Kante Seeds Grant Foundation for Cancer Research (KD2021030001)

  • 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。

     

  • 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 非常有把握观察值接近真实值
    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
    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 有1项或多项高质量的随机对照研究回答该临床问题
    针对该问题,有设计良好的临床研究但样本量小于500
    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
    下载: 导出CSV

    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。
    下载: 导出CSV

    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
    下载: 导出CSV
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  • 收稿日期:  2024-01-12
  • 录用日期:  2024-02-01
  • 出版日期:  2024-03-20
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