Lupinacci Renato M, Bachet Jean-Baptiste, André Thierry, Duval Alex, Svrcek Magali
INSERM, UMR S 938 - Centre de Recherche Saint-Antoine, Equipe « Instabilité des Microsatellites et Cancers », Equipe labellisée par la Ligue Nationale contre le Cancer, F-75012, Paris, France; Groupe Hospitalier Diaconesses - Croix Saint-Simon, Service de Chirurgie Digestive, Viscérale et Endocrinienne, France.
Sorbonne Université, Université Pierre et Marie Curie - Paris 6, Paris, France; AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Service d'Hépato-Gastro-Entérologie, Paris, France.
Surg Oncol. 2019 Mar;28:121-127. doi: 10.1016/j.suronc.2018.11.019. Epub 2018 Nov 26.
Pancreatic cancer is a major cause of cancer-associated mortality, with a dismal overall prognosis that has remained almost unchanged for many decades. Pancreatic cancer has few prevalent genetic mutations. Available data on dMMR pancreatic cancer is limited and heterogeneous with regard to its prevalence and prognostic implications. Discordant results are mainly due to differences in detection methods and sample sizes. Interest in dMMR is growing since initial reports on immune checkpoint inhibition therapy for pancreatic cancer has shown it to be effective, generating impressive and durable responses. However, it has been accompanied by several questions regarding the appropriate screening, detection tools, patient selection, timing and modality of testing. Herein, we provide an extensive literature review and outline recommendations for testing.
胰腺癌是癌症相关死亡的主要原因，其总体预后很差，几十年来几乎没有变化。胰腺癌很少有常见的基因突变。关于错配修复缺陷（dMMR）胰腺癌的现有数据在其患病率和预后影响方面有限且不一致。结果不一致主要是由于检测方法和样本量的差异。自从关于胰腺癌免疫检查点抑制疗法的初步报告显示其有效并产生了令人印象深刻且持久的反应以来，对dMMR的兴趣与日俱增。然而，这也伴随着一些关于适当筛查、检测工具、患者选择、检测时间和方式的问题。在此，我们提供了广泛的文献综述并概述了检测建议。
